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Aggressive fibromatosis
Aggressive fibromatosis
Aggressive fibromatosis
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Aggressive fibromatosis
Other namesDesmoid tumor, deep fibromatosis, desmoid fibromatosis
Desmoid tumor as seen on CT scan
SpecialtyOncology, surgery, radiology
ComplicationsPain, loss of function, restricted movement
Usual onset30–40 years[1]
Risk factorsCTNNB1 and APC gene mutations, familial adenomatous polyposis, estrogen levels, pregnancy, physical trauma or surgery
Diagnostic methodBiopsy
Differential diagnosisBroad, including fibroblastic sarcomas, superficial fibromatosis, nodular fasciitis, gastrointestinal stromal tumor, and scar tissue
TreatmentWatchful waiting; surgery; radiation therapy‚ chemotherapy; antiestrogen medication; NSAIDs; ablation with cold, heat, or ultrasound
Incidence5–6 per million per year[2]

Aggressive fibromatosis or desmoid tumor is a rare condition. Desmoid tumors are a type of fibromatosis and related to sarcoma, though without the ability to spread throughout the body (metastasize). The tumors arise from cells called fibroblasts, which are found throughout the body. Fibroblasts provide protection to the vital organs and structural support to other tissues, and play a critical role in wound healing. Desmoid tumors tend to occur in women in their thirties, but can occur in anyone at any age. They can be either relatively slow-growing or malignant. However, aggressive fibromatosis is locally aggressive and invasive, with spindle-like growths. The tumors can lead to pain, life-threatening problems, or, rarely, death when they invade other soft tissue or compress vital organs such as intestines, kidneys, lungs, blood vessels, or nerves. Most cases are sporadic, but some are associated with familial adenomatous polyposis (FAP). Approximately 10% of individuals with Gardner's syndrome, a type of FAP with extracolonic features, have desmoid tumors.[3]

In 2020, the World Health Organization reclassified desmoid tumors (termed desmoid-type fibromatosis) as a specific type of tumor in the category of intermediate (locally aggressive) fibroblastic and myofibroblastic tumors.[4]

Histologically they resemble very low-grade fibrosarcomas,[5] but they are very locally aggressive and tend to recur even after complete resection. The condition is "characterized by a variable and often unpredictable clinical course."[2] There is a tendency for recurrence in the setting of prior surgery; in one study, two-thirds of patients with desmoid tumors had a history of prior abdominal surgery.[6] The condition can be chronic and may be debilitating.[7]

Causes

[edit]

Wnt signaling pathway alterations are the likely cause of desmoid tumor formation.[8] Mutations have been discovered in both the beta-catenin encoding CTNNB1 gene and the tumor-suppressing APC gene, which affect the Wnt pathway. A 2015 study on desmoid tumors lacking these mutations found that almost all, 95%, "may have mutations that affect the Wnt/β-catenin pathway, suggesting a near universal relationship between desmoid tumors and Wnt signaling."[8]

The majority of cases are sporadic, most of which – 85% – involve a CTNNB1 mutation.[9] Of these, "the three distinct mutations identified are 41A, 45F, and 45. Mutation 45F is associated with a high risk of recurrence."[1] APC mutations affect FAP patients and make up a smaller percentage, 10–15%, of sporadic cases.[9]

The disease has a tendency to occur during and after pregnancy and in exposure to higher estrogen levels, suggesting a hormonal link.[10] One study noted the formation of desmoid tumors in guinea pigs after prolonged estrogen exposure.[11] Other factors include trauma and surgery.[8]

Risk factors for desmoid disease amongst FAP patients include female sex, a 3' APC mutation, a positive family history, and a history of previous abdominal surgery.[12]

Diagnosis

[edit]

A biopsy is always indicated as the definitive method to determine the nature of the tumor.[1] Diagnosis may be difficult in part due to the use of core needle biopsy over open biopsy.[13]

Similarities among bland spindle-cell lesions lead to a large number of possibilities in diagnosis, including fibroblastic sarcomas, Gardner fibroma, scar tissue or keloids, superficial fibromatosis, nodular fasciitis, myofibroma, collagenous fibroma, gastrointestinal stromal tumor, solitary fibrous tumor, phyllodes tumor, and other conditions. Such conditions may therefore also be incorrectly diagnosed as desmoid tumors (29% of cases in one review).[14][10][15][16] Some 30–40% of desmoid tumors may be misdiagnosed.[17]

Classification

[edit]
Desmoid tumor
Desmoid fibromatosis, H&E stain. Banal fibroblasts infiltrate the adjacent tissue in fascicles. Mitoses may be infrequent.

Desmoid tumors can occur almost anywhere in the body.[18] They are classified as extra-abdominal, abdominal wall, or intra-abdominal; the last is more common in patients with FAP.[19] Most cases occur in the mesentery, abdominal wall, and extremities.[20] One study has shown extra-abdominal tumors making up 43% of cases, abdominal tumors 49%, and mesenteric 8%, though statistics vary.[11] Pregnancy-related tumors typically arise in the abdominal wall.[21] Tumors located intra-abdominally or in the head and neck have the highest risk of mortality due to the proximity to vital structures.[22]

One analysis has shown a median tumor size of 7.5 cm (3.0 in).[18] Though metastasis cannot occur, the tumors may in some cases be multifocal, with several located in the same body part.[23]

A 3' APC mutation is the most significant risk factor for intra-abdominal desmoid development amongst FAP patients.[24] FAP patients presenting with an abdominal wall desmoid pre-operatively are at an increased risk of developing an intra-abdominal desmoid post-operatively.[25]

Desmoid tumors of the breast are rare, constituting 4% of extra-abdominal cases and 0.2–0.3% of breast tumors.[20][16] Although benign, they can mimic breast cancer on physical examination, mammography and breast ultrasound and can also be locally invasive. Even though they occur sporadically, they can also be seen as a part of Gardner's syndrome. Some cases – up to 44% – occur in patients who have previously had breast surgery.[26] A high index of suspicion and a thorough triple examination protocol is necessary to detect rare lesions like a desmoid tumor which can masquerade as breast carcinoma. Desmoid tumor of the breast may present a difficulty in the diagnosis especially where imaging studies are not conclusive and suggest a more ominous diagnosis.[27] They may arise in the chest wall or the breast itself.[11][16]

Desmoid tumors may occur in the head and neck, more commonly among children, and tend to be more aggressive than in other extra-abdominal locations. These tumors constitute up to 23% of extra-abdominal cases.[11] Treatment is typically more aggressive due to the increased dangers of a tumor in the area.[23][28]

Staging

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There is no standard staging system; desmoid tumors do not fall under cancer staging systems as they do not metastasize.[26]

Treatment

[edit]

Nirogacestat, a selective gamma secretase inhibitor, was approved for medical use in the United States in November 2023.[29] It is the first medication approved by the US Food and Drug Administration (FDA) for the treatment of desmoid tumors.[29][30]

A Phase 2/3 trial on AL102, another selective gamma secretase inhibitor, is also ongoing as of 2023, having begun in 2021.[31] The drug was granted orphan drug status in 2023.[32]

Wnt pathway inhibitors are also being developed and studied as of 2024. These include E7386, tegavivint and ipafricept.[33] Additionally, the tumor microenvironment in desmoid tumors is being investigated to find new targets for treatment.[34]

Surgery was the standard treatment for desmoid tumors up to the early 2000s.[2][35] Due to the condition's unpredictability, more conservative management such as watchful waiting has since become common due to the potential impacts of surgical interventions. As of the 2010s, there is a "clear consensus"[2] from medical groups, including the European Organization for Research and Treatment of Cancer Soft Tissue and Bone Sarcoma Group and the European Society for Medical Oncology: immediate surgical resection is no longer the first-line treatment, particularly in asymptomatic patients.[8][20][2] Complete removal is not always possible due to the tumors' infiltrative nature and tendril-like growth.[10]

In more advanced, recurring, or rapidly progressing cases, treatment may consist of complete surgical removal, radiation therapy, antiestrogens (e.g. tamoxifen), nonsteroidal anti-inflammatory drugs (NSAIDs), chemotherapy (e.g. methotrexate and vinblastine or vinorelbine, doxorubicin), or ablation (cold, heat, ultrasound). Treatment with oral tyrosine kinase inhibitor drugs (e.g. imatinib, sorafenib, pazopanib, sunitinib) shows promising success rates.[36][23][37][33][38] Radiation therapy after surgery may improve outcomes.[10][38] Despite the condition's hormonal link, anti-hormonal therapies only appear to work in a small subset of patients.[10]

Intestinal transplant is a treatment option for those patients with complicated desmoid tumor, such as those involving the mesenteric root, or those with intestinal failure resulting from the tumor or prior interventions.[39]

MRI or CT imaging scans are commonly used for monitoring.[40][1]

In contrast with cancer, management of desmoid tumors considers additional outcomes beyond progression-free survival and overall survival, as desmoid tumor patients' "survival is longer and ... age of onset is generally younger compared with cancer patient populations".[41]

Outcomes

[edit]

Disease course

[edit]

The condition is "characterized by a variable and often unpredictable clinical course",[2] often considered chronic,[8] and with the potential to be debilitating.[7] Death, however, is uncommon.[22][41] Tumors may grow, regress, or remain stable:[17]

  • Resolution without treatment (10–28%)
  • Progression and resolution (30%)
  • Stable (50%)
  • Rapid progression (10%)

Management of these lesions is complex, the main problem being the high rates of recurrence particularly in FAP-associated disease. Recurrence rates in general vary from 19 to 77 percent.[11] Conversely, for intra-abdominal fibromatosis without evidence of FAP, although extensive surgery may still be required for local symptoms, the risk of recurrence appears to be lower.[42]

Impacts

[edit]

One review summarizes the disease's impact on patients stating, "the burden of [desmoid tumors] is disproportionately borne by women of childbearing and working age, and because it is associated with low mortality and a relatively young patient population, it typically continues for decades."[41]

Symptoms vary significantly as they are dependent on the tumor's location and effects on the surrounding structures.[41] Though desmoid tumors do not metastasize, their invasiveness may lead to pain and loss of function or restricted movement. Chronic pain is an issue for as many as 63% of patients and may be debilitating and lead to reliance on pain medication.[17][41] Pressure on vital organs or deformity may occur.[17][10] Rarely, amputation may be necessary due to injury caused by the tumor or its treatments.[41]

Tumors may be misdiagnosed (30–40%)[17] due to their rarity and a lack of knowledge; patients may initially be given inappropriate treatment or poor prognoses due to misdiagnosis with conditions such as malignant sarcoma.[43][44] Patients may need to visit multiple healthcare providers to receive a diagnosis, causing delay in care. Patients may experience issues including anxiety, fatigue, or trouble sleeping; despite the increased survival rate, their level of emotional distress has been compared to that of cancer patients, including "patients with sarcoma, also a malignant connective tissue disorder".[17][44][41] A lack of knowledge by healthcare providers and of information available to patients and others have also been cited as issues.[43]

The economic burden of treatment may be significant, with surgery costs estimated at $50,000 in 2022 US dollars.[35]

Specific instruments to determine health-related quality of life impacts for desmoid patients, the Gounder/Desmoid Tumor Research Foundation (DTRF) Desmoid Symptom/Impact Scale (GODDESS) and the Desmoid-type fibromatosis Quality of Life Questionnaire (DTF-QOL) have been developed and validated.[17]

Epidemiology

[edit]

The incidence of desmoid tumors is 5–6 per million per year;[2] they constitute 0.03% of tumors and less than 3% of soft-tissue tumors. The primary age range is 15–60, with a peak between 30 and 40 years old; it is 2–3 times more common in females than males.[1][45][41] A 2012 retrospective multi-institutional analysis of 211 patients found a median age of 36 and a 68% female prevalence.[18] Children do not have the same sex disparity and are most commonly affected around 15 or 16 years old.[22]

History and etymology

[edit]
The cut surface of desmoid-type fibromatosis is firm, white, and whorled. The white tumor infiltrates the adjacent skeletal muscle (red tissue – lower left) and fat (yellow tissue – upper left). This tendency for invasion of adjacent normal tissues and structures is the reason that desmoid-type fibromatosis has a relatively high rate of local recurrence, even after surgical removal.

The condition was first described in 1832 by John MacFarlane. Desmoid, used by Johannes Peter Müller in 1838, comes from the Greek desmos 'band or tendon-like', describing the tumors' consistency.[45][46] The term found broad acceptance in the 1880s.[47] Over the next several decades, Georg Ledderhose and C. Pfeiffer compiled and reported a number of cases, reaching 400 by the early 1900s.[47] In 1923, Ralph W. Nichols first described the correlation between familial adenomatous polyposis (FAP) and desmoid tumors.[48] Arthur Purdy Stout coined the term fibromatosis (in the name congenital generalized fibromatosis, describing myofibromatosis) in 1954.[49]

ICD-10-CM diagnosis codes

[edit]

Few rare diseases have a specific code in the International Classification of Diseases.[50] As of October 2023, specific codes for desmoid tumors will be included in the ICD-10-CM, the United States' diagnosis code system, after a request from the Desmoid Tumor Research Foundation.[51] A subcategory of D48.1, Neoplasm of uncertain behavior of connective and other soft tissue, has been created with more specific codes:[50]

  • D48.11: Desmoid tumor
    • D48.110: Desmoid tumor of head and neck
    • D48.111: Desmoid tumor of chest wall
    • D48.112: Desmoid tumor, intrathoracic
    • D48.113: Desmoid tumor of abdominal wall
    • D48.114: Desmoid tumor, intraabdominal
      • Desmoid tumor of pelvic cavity
      • Desmoid tumor, peritoneal, retroperitoneal
    • D48.115: Desmoid tumor of upper extremity and shoulder girdle
    • D48.116: Desmoid tumor of lower extremity and pelvic girdle
      • Desmoid tumor of buttock
    • D48.117: Desmoid tumor of back
    • D48.118: Desmoid tumor of other site
    • D48.119: Desmoid tumor of unspecified site

Notable patients

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In animals

[edit]

Desmoid tumors occur in dogs, primarily on the head, and more infrequently in horses and cats.[55] A case has also been observed in a goat.[56]

References

[edit]
Revisions and contributorsEdit on WikipediaRead on Wikipedia

Aggressive fibromatosis

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from Grokipedia
Aggressive fibromatosis, also known as desmoid tumor or desmoid-type fibromatosis, is a rare, clonal mesenchymal neoplasm arising from fibroblastic or myofibroblastic cells in the deep soft tissues of the body. Classified by the World Health Organization as an intermediate soft tissue tumor due to its locally aggressive behavior, it exhibits infiltrative growth without metastatic potential, often leading to significant morbidity through invasion of adjacent structures such as muscles, nerves, or viscera. Epidemiologically, aggressive fibromatosis has an estimated incidence of 2–5 cases per million individuals per year, with a peak onset between the ages of 15 and 60, and a female-to-male ratio of approximately 2:1. Roughly 85–90% of cases are sporadic, frequently driven by somatic mutations in the CTNNB1 gene that stabilize β-catenin and activate the , while 5–10% occur in association with (FAP) due to mutations in the APC gene. Additional risk factors include prior trauma or , , and states of elevated , though the precise remains incompletely understood. Clinically, these tumors most commonly manifest as slow-growing, painless masses in the abdominal wall (50% of cases), intra-abdominally, or in the extremities and trunk, potentially causing symptoms such as localized pain, swelling, functional limitations, or bowel obstruction depending on the site and size. Diagnosis typically begins with imaging modalities like magnetic resonance imaging (MRI), which reveals a heterogeneous, T2-hyperintense mass with infiltrative margins, followed by core needle or excisional biopsy to confirm histopathologic features: bland, uniform spindle cells embedded in a collagenous stroma, with nuclear immunoreactivity for β-catenin in over 90% of cases. Molecular testing for CTNNB1 or APC mutations can further support classification and assess recurrence risk. Management of aggressive fibromatosis has evolved toward a conservative, multidisciplinary approach, prioritizing active surveillance for or stable tumors, as up to 30% may spontaneously regress or stabilize without intervention. For symptomatic or progressive disease, frontline options include systemic therapies such as the multikinase inhibitor (achieving disease control in about 80% of patients) or the gamma-secretase inhibitor nirogacestat (FDA-approved on November 27, 2023, which reduced the risk of disease progression or death by 71% compared to in the phase 3 DeFi trial). Surgery is now reserved for select cases due to recurrence rates of 20–77%, though it may be combined with or ablation techniques like in refractory scenarios. Overall prognosis is favorable, with near-zero mortality from , though long-term morbidity from local recurrence and treatment side effects necessitates individualized care.

Introduction and Background

Definition and characteristics

Aggressive fibromatosis, also known as desmoid tumor, desmoid-type fibromatosis, or deep fibromatosis, is a rare clonal fibroblastic proliferation of myofibroblasts that forms a locally invasive soft tissue tumor without metastatic potential. It arises from deep soft tissues, including fascia, musculoaponeurotic structures, and periosteum, and is characterized by infiltrative growth that can encroach on adjacent structures such as muscles, nerves, and vessels. Despite its benign histology, the tumor exhibits aggressive local behavior, with a notable risk of recurrence following incomplete excision, often ranging from 20% to 30%. Microscopically, aggressive fibromatosis consists of uniform spindle-shaped fibroblastic or myofibroblastic cells arranged in long, sweeping fascicles within a stroma. These cells display pale , minimal nuclear atypia, and lack significant hyperchromasia, with variable deposition that may include areas of hyalinization or myxoid change. The stroma often features thin-walled vessels and occasional microhemorrhages, while the overall architecture shows no and a typically low mitotic rate. It is sometimes associated with genetic mutations, such as those in the or CTNNB1 genes, though these are explored in greater detail elsewhere. This entity is distinguished from sarcomas by its absence of malignant features, including high mitotic activity, marked cellular pleomorphism, and , which are hallmarks of true malignancies. Instead, aggressive fibromatosis maintains a bland cytologic appearance and clonal but non-metastasizing proliferation, underscoring its intermediate behavior between benign fibromatoses and sarcomas.

History and etymology

The first description of what is now known as aggressive fibromatosis dates to 1832, when Scottish surgeon John Macfarlane reported a tendon-like fibrous tumor arising from the of a 30-year-old woman during a postmortem examination. In 1838, German pathologist coined the term "desmoid" for these lesions, derived from the Greek word , meaning "band" or "," to reflect their firm, band-like consistency and resemblance to tendinous tissue. During the , desmoid tumors were often misclassified as fibrosarcomas due to their infiltrative growth pattern and histological similarity to malignant fibrous neoplasms, leading to aggressive surgical interventions despite their lack of metastatic potential. By the mid-, pathologists began reclassifying them to emphasize their benign but locally invasive nature; the term "fibromatosis" was introduced by Arthur Purdy Stout in the 1940s and 1950s to describe a spectrum of fibroblastic proliferations, including desmoids, distinguishing them from true sarcomas. This shift culminated in the widespread adoption of "aggressive fibromatosis" as a descriptor in the late , highlighting their non-metastasizing yet recurrence-prone behavior without implying outright . Key milestones in understanding aggressive fibromatosis include Stout's 1948 seminal paper on fibrosarcomas, which helped delineate desmoids as a distinct entity through detailed histopathological analysis. Additionally, the association between desmoid tumors and familial adenomatous polyposis (FAP) was established in the mid-20th century through the description of Gardner syndrome, an inherited condition caused by APC gene mutations, prompting targeted screening and management strategies for at-risk patients. Today, aggressive fibromatosis is classified by the World Health Organization as an intermediate fibroblastic and myofibroblastic tumor.

Epidemiology and Occurrence

Incidence and demographics

Aggressive fibromatosis, also known as desmoid tumor, is a rare with an estimated annual incidence of 2 to 5 cases per 1,000,000 people worldwide. It accounts for approximately 0.03% of all tumors and less than 3% of tumors. The condition predominantly affects individuals between 15 and 60 years of age, with the highest frequency observed in the 20- to 44-year-old age group; it is rare in children younger than 5 years and in adults over 70. There is a notable predominance, with a ranging from 2:1 to 3:1, potentially influenced by hormonal factors such as . Geographically, aggressive fibromatosis shows no strong ethnic or regional variations, though higher reported rates in Western populations may reflect improved diagnostic capabilities rather than true differences. In patients with (FAP), the lifetime risk of developing the tumor is substantially elevated, reaching 20% to 30%.

Anatomic locations and variants

Aggressive fibromatosis, also known as desmoid-type fibromatosis, primarily arises in three anatomic categories based on location: extra-abdominal, , and intra-abdominal, with distinct distributions and clinical implications. tumors account for approximately 50% of cases and frequently develop in women, often associated with postpartum changes or prior surgical scars like those from cesarean sections. Extra-abdominal tumors most commonly occur in the extremities (such as the and ), trunk, and head/ regions and comprise about 40% of cases; these are typically sporadic and involve deep musculoaponeurotic structures. Intra-abdominal tumors comprise about 10% of cases and predominantly involve the or retroperitoneum; these are more frequently linked to (FAP) and exhibit heightened local aggressiveness. Key variants of aggressive fibromatosis include sporadic forms, which constitute 85-90% of cases driven by somatic CTNNB1 mutations, versus FAP-related forms (5-10%) associated with germline mutations, with the latter more prevalent in intra-abdominal sites. Additionally, while superficial fibromatoses (such as palmar or plantar types) are genetically distinct and generally less aggressive with smaller size and lower recurrence, aggressive fibromatosis itself is classified as the deep musculoaponeurotic subtype, which is rare in superficial locations and characterized by infiltrative growth into muscle and . Site-specific behaviors vary significantly; tumors in the extremities often cause symptoms due to mechanical compression, leading to pain and restricted mobility, whereas intra-abdominal lesions in the or retroperitoneum carry a substantial risk of and higher recurrence rates in FAP-associated cases (75-85%). variants, particularly in women, may show accelerated growth during or after but generally have lower recurrence following resection compared to deeper sites.

Etiology and Pathogenesis

Risk factors and triggers

Aggressive fibromatosis, also known as desmoid tumor, exhibits several non-genetic risk factors that predispose individuals to its development, including female sex and young adulthood as demographic amplifiers. The condition occurs more frequently in women, with a female-to-male ratio of approximately 2:1, particularly during reproductive years. Incidence peaks in young adults aged 20 to 40 years, though it can arise at any age. Hormonal influences, particularly exposure, play a notable role in triggering the tumor's onset and progression. Higher incidence is observed during or shortly after , with some cases linked to abdominal wall desmoids emerging postpartum, potentially due to elevated levels and tissue changes. Estrogen's involvement is further suggested by tumor regression during and associations with oral contraceptive use, as well as potential fluctuations tied to the . Trauma and prior represent key local triggers, especially in sporadic cases comprising the majority of occurrences. Approximately 10-20% of sporadic aggressive fibromatosis cases arise at sites of previous surgical scars, such as those from cesarean sections or other abdominal procedures, with a median lag time of about 23 months post-trauma. Physical trauma, including blunt injuries, is implicated in around 7-20% of cases, often leading to tumor development at the injury site. Prior is a rare trigger, reported in isolated instances but not strongly established as a common risk. In contrast, no robust links exist between use, alcohol consumption, or these tumors. Approximately 5-10% of aggressive fibromatosis cases are associated with familial syndromes, notably (FAP) or Gardner syndrome, where tumors predominate in the abdomen and often emerge post-surgery. These cases stem from underlying genetic underpinnings in FAP, such as gene alterations, which amplify susceptibility but are detailed in molecular mechanisms.

Genetic and molecular mechanisms

Aggressive fibromatosis, also known as desmoid-type fibromatosis, primarily arises through dysregulation of the Wnt/β-catenin signaling pathway, driven by specific genetic alterations in most cases. Sporadic cases, comprising 85-90% of all instances, are characterized by somatic mutations in the CTNNB1 gene, which encodes β-catenin, occurring in 70-85% of tumors. Among CTNNB1 mutations, S45F is associated with higher recurrence risk compared to T41A. These mutations cluster in exon 3 and typically produce missense substitutions at codons 41 or 45, including T41A ( to ), S45F ( to ), and S45P ( to ), with T41A being the most prevalent at approximately 50-60% of mutated cases, followed by S45F (30-35%) and S45P (around 8%). In addition, somatic APC gene mutations or loss-of-function alterations are detected in approximately 3-5% of sporadic tumors, further contributing to pathway activation. In contrast, the 5-10% of cases associated with (FAP) feature germline APC mutations, which truncate the APC protein and impair its role in the β-catenin destruction complex, leading to constitutive Wnt pathway dysregulation. These mutations stabilize β-catenin by preventing its ubiquitination and proteasomal degradation, resulting in its nuclear translocation and accumulation—a hallmark feature observed in over 95% of aggressive fibromatosis tumors regardless of . Aberrant Wnt/β-catenin signaling promotes myofibroblastic proliferation through transcriptional activation of target genes, including c-Myc, which regulates cell growth and survival. Mutations in either CTNNB1 or disrupt the destruction complex (comprising APC, AXIN, GSK3β, and CK1), halting β-catenin phosphorylation at key serine/threonine residues and enabling its binding to TCF/LEF transcription factors. While rare alterations in other Wnt regulators such as LRP6 or AXIN1 have been implicated in isolated cases, no consistent chromosomal abnormalities, such as recurrent translocations or , are identified across the disease spectrum.

Clinical Features

Signs and symptoms

Aggressive fibromatosis, also known as desmoid tumor, most commonly presents as a painless, firm, slow-growing mass that may be discovered incidentally during routine imaging or for unrelated issues. Many cases are at , particularly smaller extra-abdominal tumors, allowing for initial without immediate intervention. Symptoms vary significantly by anatomic location due to the tumor's local invasiveness. In the extremities, patients often experience pain, swelling, and limited as the mass compresses surrounding muscles, nerves, or joints. tumors typically manifest as a palpable lump, sometimes following prior trauma or in the area. Intra-abdominal desmoid tumors can cause , cramping, , or more severe complications such as and from ureteral compression. In advanced cases, the tumor's growth leads to functional impairments, including neuropathy from nerve compression or reduced mobility in affected limbs. Rare systemic effects, such as , may occur if intra-abdominal tumors interfere with or cause chronic . Progression is generally gradual, with enlargement occurring over months to years, though rare instances of rapid growth have been reported.

Natural disease course

Aggressive fibromatosis, also known as desmoid-type fibromatosis, exhibits a highly variable characterized by local invasiveness without metastatic potential. The tumor typically demonstrates indolent behavior, infiltrating surrounding structures such as muscle, , and viscera, but it does not spread distantly. The growth patterns of untreated tumors are unpredictable, with approximately 50-60% remaining stable after , showing no significant enlargement over periods of at least 6 months to several years. In observational studies, up to 70% of cases display slow or no progression, while a subset may exhibit initial growth followed by stabilization. Spontaneous regression occurs in 10-30% of cases, particularly in tumors associated with , where postpartum resolution has been documented in up to 30% of instances. Without intervention, the disease follows a chronic trajectory, with median time to progression estimated at 1-2 years in progressing cases, though many enter a prolonged stable phase lasting years. Local regrowth or progression after apparent stability is possible but uncommon, and is exceedingly rare, with no distant reported in cohorts. Factors influencing the course include tumor location and genetic associations; extra-abdominal lesions often follow a more predictable, less aggressive pattern compared to intra-abdominal ones, while those linked to (FAP) tend to be more proliferative and less prone to spontaneous regression.

Diagnostic approaches

Diagnosis of aggressive fibromatosis, also known as desmoid-type fibromatosis, relies on a combination of modalities and histopathological confirmation to distinguish it from other tumors. plays a crucial role in initial evaluation, with (MRI) considered the gold standard for assessing extent, infiltration, and surgical planning due to its superior contrast. On MRI, lesions typically appear isointense to on T1-weighted images and heterogeneously hyperintense on T2-weighted images, often exhibiting a "band sign" of low-signal intensity bands representing dense bundles. Post-contrast enhancement is moderate to marked in approximately 90% of cases, correlating with higher T2 signal intensity and more aggressive growth patterns. Advanced techniques like diffusion-weighted MRI enhance characterization. (CT) is useful for detecting calcifications, particularly in intra-abdominal or mesenteric lesions, where tumors may show ill-defined margins and a whorled appearance, though it is less sensitive for delineation than MRI. serves as a first-line tool for superficial, palpable lesions, revealing oval solid masses with variable , smooth or ill-defined margins, and heterogeneous on color Doppler, aiding in guidance. Definitive requires tissue sampling via , as alone cannot reliably exclude . Core needle , often -guided, is preferred for its adequacy in providing sufficient material for histopathological analysis, while incisional may be used for larger or deeper lesions to ensure representative sampling. Excisional is generally avoided initially to prevent potential seeding along the biopsy tract in infiltrative tumors. Molecular testing for CTNNB1 or mutations is increasingly routine for confirming and assessing recurrence risk, as recommended in current guidelines. Histopathological examination reveals a proliferation of uniform spindle-shaped myofibroblasts arranged in sweeping fascicles or a storiform pattern within a collagenous stroma, with minimal nuclear atypia, low mitotic activity, and infiltration of surrounding tissues without encapsulation. Immunohistochemistry is confirmatory, showing nuclear positivity for beta-catenin in over 90% of cases due to CTNNB1 mutations, cytoplasmic positivity for smooth muscle actin (SMA), and negativity for desmin and S-100 protein, helping to rule out myogenic or neural tumors. Genetic testing for CTNNB1 or APC mutations may support the diagnosis in select cases, particularly those associated with familial adenomatous polyposis. Differential diagnosis includes sarcomas (e.g., low-grade ), reactive processes (e.g., ), and other fibroproliferative lesions (e.g., gastrointestinal stromal tumors or in abdominal sites), which are excluded through the combination of imaging characteristics, histopathologic features lacking or high mitotic rates, and specific IHC profiles. A multidisciplinary approach involving radiologists, pathologists, and surgeons is essential for integrated assessment and accurate diagnosis.

Classification systems

Aggressive fibromatosis, also known as desmoid-type fibromatosis, is classified by the (WHO) under the category of fibroblastic and myofibroblastic tumors as an intermediate (locally aggressive) . This designation reflects its infiltrative growth pattern and tendency for local recurrence without metastatic potential, distinguishing it from both benign fibrous lesions and high-grade sarcomas. The 2020 WHO classification emphasizes its clonal fibroblastic proliferation arising in deep soft tissues. Classification systems also categorize cases based on anatomic , which influences clinical and . Extra-abdominal desmoids typically occur in the extremities, trunk, head, or , accounting for 40-50% of cases and often presenting as painless masses. Abdominal wall fibromatosis, comprising about 25-35% of occurrences, is frequently associated with prior trauma or in women of childbearing age. Intra-abdominal or mesenteric variants, representing 15-20%, arise within the and are more common in syndromic contexts, potentially causing or vascular compression. Etiologic subtypes further refine classification into sporadic and syndromic forms. Sporadic desmoid-type fibromatosis, which constitutes 85-90% of cases, is primarily driven by somatic mutations in the CTNNB1 gene encoding beta-catenin. In contrast, syndromic cases (10-15%) are linked to mutations in the gene, most notably in (FAP), where desmoids often develop intra-abdominally and contribute significantly to morbidity. Historically, aggressive fibromatosis was misclassified as a low-grade (grade 1) due to its infiltrative behavior, leading to overly aggressive treatments in the mid-20th century. By the , evolving histopathological understanding reclassified it as a non-malignant, borderline tumor, shifting focus from radical resection to more conservative approaches and recognizing its lack of metastatic capability. Prognostic subclassification within sporadic cases often incorporates beta-catenin mutation types, as specific CTNNB1 variants correlate with recurrence post-resection. For instance, the S45F is associated with a higher likelihood of local recurrence (up to 70-80% in some cohorts) compared to T41A or wild-type tumors, guiding -adapted . This molecular stratification, while not universal, aids in identifying higher-risk subsets without altering the intermediate-grade status.

Staging and risk stratification

Aggressive fibromatosis, also known as desmoid tumor, lacks a formal due to its non-metastatic nature, relying instead on clinical risk models that incorporate tumor site, size, symptoms, and patient factors to predict progression and recurrence. These models guide management by identifying low-risk cases suitable for observation versus high-risk cases requiring intervention. The (MSKCC) represents a widely used tool for estimating local recurrence-free survival after , based on factors such as age, tumor site (e.g., extremity versus abdominal), size, and margin status. In this system, low-risk features include extremity location, tumor size less than 5 cm, and asymptomatic presentation, while high-risk characteristics encompass intra-abdominal site, size greater than 10 cm, and symptomatic disease, with extremity tumors and sizes over 5 cm independently associated with higher relapse rates. Younger age (under 30 years) further elevates risk across categories. For cases associated with (FAP), staging focuses on intra-abdominal tumors and assesses multiplicity, invasion, and clinical impact, distinguishing unicentric (solitary) from multicentric (multiple) lesions that infiltrate critical structures like the or vasculature. A dedicated staging system classifies these into four stages: Stage I (small, , unicentric tumors without complications); Stage II (moderate size or symptoms, limited invasion); Stage III (larger, symptomatic with significant obstruction or invasion); and Stage IV (extensive multicentric disease causing severe complications like or ureteral involvement). In a 2012 study of 154 patients, 5-year mortality was 0% for stages I and II, 11% for stage III, and 24% for stage IV due to complications. This FAP-specific approach highlights poorer outcomes in advanced stages. Key risk factors for progression include positive surgical margins, young age at , and trunk or abdominal , which correlate with higher recurrence rates. Histologic assessment, including tools evaluating mitotic activity and specific CTNNB1 mutations (e.g., S45F), aids in further stratifying risk, as certain mutations predict aggressive behavior. These stratification methods inform decisions between for low-risk disease and active therapy for high-risk cases, with 5-year ranging from 50% in high-risk groups to 80% in low-risk cohorts.

Management and Treatment

Therapeutic options

The management of aggressive fibromatosis, also known as desmoid-type fibromatosis, emphasizes a conservative, individualized strategy that prioritizes function preservation and minimizes morbidity, guided by multidisciplinary tumor boards involving surgeons, oncologists, radiologists, and pathologists. Treatment selection is risk-based, considering tumor site, symptoms, growth kinetics, and patient factors such as age and comorbidities, with active surveillance often preferred for low-risk cases. Watchful waiting, or active surveillance, is the frontline approach for or minimally symptomatic tumors, particularly those in critical locations like the or retroperitoneum, where intervention risks outweigh benefits. This involves serial imaging with MRI (preferred for evaluation) or CT every 3 months initially, extending to 6 months if stable, to monitor for progression, which occurs in approximately 50% of cases at 5 years, while 20-30% may spontaneously regress. Evidence supports this strategy with level IV data and a grade B recommendation, as it avoids unnecessary treatments in indolent disease. Surgery remains an option for symptomatic, progressive, or resectable tumors where complete excision is feasible with acceptable morbidity, such as isolated lesions. The goal is R0 resection (negative margins) for optimal local control, achieving approximately 80% at 5 years, though function-sparing techniques are prioritized over aggressive margins due to high recurrence rates (25-60%) and potential complications like nerve damage or organ loss. Morbidity concerns limit its use in intra-abdominal or extremity sites, with decisions deferred to expert consensus (level IV evidence, grade A recommendation). Radiation therapy is reserved for inoperable, symptomatic, or recurrent tumors not amenable to , delivering moderate doses of 50-56 Gy in 1.8-2 Gy fractions to achieve local control in 70-80% of progressive cases. It may be used adjuvantly for positive margins but is approached cautiously due to risks of secondary malignancies (up to 5-10% lifetime) and , particularly in young patients or radiosensitive sites (level III evidence, grade A recommendation). Systemic medical therapy serves as a nonsurgical alternative for advanced, unresectable, or multi-site disease, starting with low-toxicity options like NSAIDs (e.g., ) or anti-estrogens (e.g., ) for first-line management of slowly progressive tumors, offering stabilization in many cases with minimal side effects (level III evidence, grade B recommendation). For more aggressive or symptomatic cases, low-dose chemotherapy regimens such as combined with or vinorelbine provide disease control in 60-70% of patients, particularly in critical intra-abdominal locations, though reserved for progression due to potential myelosuppression (level III evidence, grade B recommendation). Overall, therapeutic decisions follow NCCN and ESMO guidelines, advocating a tailored, multidisciplinary framework that integrates patient preferences and serial assessments to escalate from surveillance to intervention only when necessary.

Research and emerging therapies

Targeted therapies have emerged as a cornerstone of research in aggressive fibromatosis, particularly gamma-secretase inhibitors that disrupt the Notch signaling pathway implicated in tumor pathogenesis. Nirogacestat, an oral gamma-secretase inhibitor, received FDA approval in November 2023 for adult patients with progressing desmoid tumors requiring systemic treatment, based on the phase 3 DeFi trial demonstrating a 41% objective response rate compared to 8% with placebo and a progression-free survival hazard ratio of 0.29. Nirogacestat also received European approval in August 2025 for adult patients with progressing desmoid tumors. This approval marked the first systemic therapy specifically for desmoid tumors, with long-term follow-up data from the DeFi trial presented in October 2025 showing durable objective responses, further tumor size reductions (median -75.8% at 4 years in long-term patients), median treatment duration of 33.6 months, and improved pain scores. Tyrosine kinase inhibitors targeting the beta-catenin/Wnt pathway, central to aggressive fibromatosis biology, continue to show promise in clinical studies. , a multi-kinase inhibitor, achieved stable disease in approximately 70% of patients in the phase 3 Alliance A091105 trial, with 81% at 2 years versus 30% for , confirming its role in delaying progression for unresectable or symptomatic cases. , another , demonstrated symptom control in 75% of patients and no radiological progression (100% stability) in a retrospective series of 8 patients, supporting its use in beta-catenin-driven tumors. , targeting PDGFR and c-KIT, has shown disease control rates around 68% in phase 2 trials, with 1-year of 66%. Ongoing clinical trials are expanding access to these agents globally and exploring combinations for refractory disease. A phase 3 trial of nirogacestat in Japanese adults with desmoid tumors initiated in September 2025 aims to evaluate efficacy and safety in this population, building on DeFi results. For refractory cases, interferon-alpha has shown partial responses in historical cohorts, while achieved sustained partial response in a 2025 of an EGFR 19del-mutated intra-abdominal tumor after multiple prior therapies. In pediatric settings, ultrasound-guided demonstrated feasibility and safety for recurrent aggressive fibromatosis, with complete response in 20% of lesions (2/10) and overall response in 80%, with no major complications in a 2025 prospective study of postoperative recurrences. Recent advances from 2023 to 2025 emphasize health-related (HRQoL) improvements with targeted agents and the role of genetic profiling in personalization. The DeFi trial reported significant HRQoL gains with nirogacestat, including reduced pain interference and better physical functioning scores versus . Genetic profiling of CTNNB1 and mutations now guides therapy selection, with 2024 studies linking specific variants to sensitivity and supporting tailored approaches to avoid ineffective treatments. Despite progress, challenges persist due to the high recurrence rate of 20-50% post-treatment and the need for strategies to minimize overtreatment morbidity. Research in 2025 highlights active for stable tumors, reducing unnecessary interventions while monitoring for progression via .

Prognosis and Patient Impacts

Prognostic factors

Aggressive fibromatosis, also known as desmoid tumor, exhibits a highly variable influenced by several clinical and molecular factors. Favorable prognostic indicators include the potential for spontaneous regression, which occurs in approximately 10-20% of cases, particularly in extra-abdominal locations. Complete surgical resection with negative margins (R0) is associated with local control rates of 70-90%, significantly reducing the risk of recurrence. Extra-abdominal sites, such as the extremities or trunk, generally portend better outcomes compared to intra-abdominal tumors, with lower rates of aggressive behavior and complications. Unfavorable factors include intra-abdominal location and association with , where recurrence rates can reach 50-70% or higher following treatment. Young age at diagnosis, particularly under 30 years, correlates with increased recurrence risk due to more aggressive tumor . Large tumor size exceeding 10 cm is linked to higher progression and poorer response to interventions. Positive surgical margins (R1 or R2) substantially elevate the likelihood of local relapse, often necessitating additional therapies. Disease-specific survival approaches 100%, as aggressive fibromatosis does not metastasize and remains histologically benign, though local invasion can lead to morbidity. The 5-year rate typically ranges from 50-70%, varying by treatment modality and tumor characteristics. Most recurrences occur within 24 months post-treatment. Multifocal disease is rare in sporadic cases. Ongoing monitoring is essential and involves serial imaging, such as MRI every 3-6 months initially, to detect progression early. Specific beta-catenin (CTNNB1) mutations, notably S45F, serve as a molecular for higher recurrence risk, guiding risk stratification and surveillance intensity. Recent systemic therapies like nirogacestat (FDA-approved in November 2023) have demonstrated improved , potentially enhancing long-term prognosis.

Physical and psychosocial impacts

Aggressive fibromatosis, also known as desmoid tumors, imposes significant physical burdens on patients due to its locally invasive nature. Functional limitations are common, particularly in extremity and trunk locations, where tumors can restrict by up to 68% and cause , leading to difficulties in daily activities such as bathing, dressing, or carrying objects. In cases involving the extremities, mobility loss is common, often resulting in reduced independence and the need for assistive devices. Post-surgical complications further exacerbate these issues, including infections and scarring. Chronic pain is a prevalent symptom, affecting up to 63% of patients and often described as severe and to standard analgesics, contributing to sleep disturbances in 73% of those affected. In intra-abdominal cases, which comprise 10-20% of all desmoid tumors, the infiltrative growth can lead to bowel or ureteral obstruction in 27-58% of patients, particularly those with , potentially requiring urgent interventions like stenting or resection. These physical manifestations not only limit mobility but also heighten fatigue and swelling around the tumor site, diminishing overall quality of life. The psychosocial impacts of aggressive fibromatosis are profound, with studies indicating heightened anxiety in 39% and depression in 50% of patients, significantly higher than in healthy controls. Health-related quality of life (HRQoL) is impaired across multiple domains, including global health status (mean score 65.58 versus higher in controls), functional scales like physical and role functioning, and increased symptom burden from pain, fatigue, and insomnia. Body image issues are particularly notable in abdominal wall cases, where visible lumps or surgical scars lead to feelings of disfigurement in 81% of patients and reduced femininity among women, affecting self-esteem and social interactions. Recurrence anxiety compounds these emotional challenges, stemming from the disease's unpredictable progression. Economic consequences add to the burden, with high treatment costs—such as approximately $259,000 to prevent one disease progression with systemic therapies like (based on )—and out-of-pocket expenses for surveillance imaging or travel to specialized centers. Work absenteeism is substantial, as 26% of patients cease employment and 10% reduce to part-time due to pain and functional limitations, leading to financial strain and dependency on support systems. plays a crucial role in mitigating these impacts; the Desmoid Tumor Research Foundation provides education, groups, and resources to empower patients and caregivers, fostering community and access to clinical trials. Additionally, hormonal therapies, once more commonly used, raise concerns, with 20% of affected women postponing due to the disease and potential estrogen-modulating effects, necessitating individualized counseling.

Special Topics

Diagnostic coding

Aggressive fibromatosis, also known as desmoid tumor, is classified under neoplasms of uncertain behavior in medical coding systems to reflect its locally aggressive but non-metastasizing nature. The primary code is D48.11 for desmoid tumor, encompassing aggressive fibromatosis across all sites. Site-specific subcodes under D48.11 provide granularity based on anatomical location, facilitating precise clinical documentation; these include D48.110 for head and neck, D48.111 for chest wall, D48.112 for intrathoracic, D48.113 for abdominal wall, D48.114 for intra-abdominal, D48.115 for upper extremity and shoulder girdle, D48.116 for lower extremity and pelvic girdle, D48.117 for back, D48.118 for other site, and D48.119 for unspecified site.
CodeDescription
D48.110Desmoid tumor of head and neck
D48.111Desmoid tumor of chest wall
D48.112Desmoid tumor, intrathoracic
D48.113Desmoid tumor of
D48.114Desmoid tumor, intra-abdominal
D48.115Desmoid tumor of upper extremity and
D48.116Desmoid tumor of lower extremity and pelvic girdle
D48.117Desmoid tumor of back
D48.118Desmoid tumor of other site
D48.119Desmoid tumor of unspecified site
For histological classification in registries, the ICD-O-3 morphology code is 8821/1, designated as , desmoid type, indicating a locally invasive but benign . These codes are primarily utilized for administrative purposes such as healthcare billing, , and population-based cancer registries like SEER, distinguishing aggressive fibromatosis from malignant sarcomas (e.g., excluding category C49 for connective and malignancies). In the 2024 update, effective October 1, 2023, ten new site-specific codes were added under D48.11 to enhance specificity for desmoid tumors, replacing the broader D48.1 category previously used; no further revisions occurred in the 2025 or 2026 updates. This refinement aligns with increased clinical recognition, including the FDA approval of nirogacestat for desmoid tumor treatment in 2023.

Occurrence in animals

Aggressive fibromatosis, also termed desmoid-type fibromatosis, is a rare condition in , with only sporadic cases reported across species rather than systematic epidemiological data. Documented occurrences are infrequent and primarily limited to individual case reports, lacking the familial associations seen in humans. Reported cases include felines, such as a 9-month-old mixed-breed male with extra-abdominal aggressive fibromatosis effacing the right and extending from the to the . Another feline instance involved a young developing desmoid fibromatosis invading the after surgical removal of an intradural . In dogs, examples encompass a young with deep soft-tissue fibromatosis in the hindlimb muscles, manifesting as firm nodules, induration, and lameness; a 10-year-old mixed-breed female with mammary fibromatosis in the cranial thoracic gland; and a 1-year-old with aponeurotic fibromatosis on the hock. Equine reports are similarly scarce, featuring intramuscular desmoid tumors in isolated horses. These animal tumors mirror human aggressive fibromatosis in their locally invasive, non-metastatic behavior, featuring infiltrative growth without encapsulation. Histologically, they consist of spindle-shaped fibroblasts in a dense collagenous stroma, with low mitotic activity, vimentin positivity, and absence of markers like desmin or S100. Pathogenesis may involve β-catenin dysregulation, akin to human cases, though direct mutations have not been extensively confirmed in veterinary specimens. Etiologic factors remain poorly defined, with potential links to trauma—such as postoperative development in the feline spinal case—but no equivalent to human has been identified. One early feline report suggested a possible association with oncogenic . Primary centers on surgical excision to achieve wide margins, though high recurrence rates due to incomplete resection are common. Adjuvant therapies are rarely documented; however, electrochemotherapy combining and has yielded complete remission in a recurring canine aponeurotic case, with no observed toxicity at 18-month follow-up.

Notable cases

One prominent case of aggressive fibromatosis, also known as desmoid tumor, involved American . Diagnosed in September 1988 with a desmoid tumor in his left during his tenure with the San Francisco Giants, Dravecky underwent surgical resection in October 1988, which removed half of the muscle. He remarkably returned to pitch in the 1989 season, appearing in eight games before a led to further evaluation revealing tumor recurrence, ultimately resulting in of his left arm and shoulder in February 1991. Dravecky chronicled his experience in books such as Comeback (1989) and When You Can't Come Back (1992), highlighting the physical and emotional challenges of the disease. Literature documents various anonymous cases illustrating the diverse presentations of aggressive fibromatosis, particularly in pediatric patients. For instance, a 14-year-old boy with presented with sudden progressive due to a large intra-abdominal desmoid tumor causing compression and near-obstruction of intestinal structures, managed through surgical intervention. Another case involved a nine-year-old with intermittent and from an abdominal desmoid tumor leading to partial , diagnosed via imaging and treated with resection. These reports underscore the potential for intra-abdominal tumors to cause life-threatening complications like obstruction in young patients, though outcomes vary with early detection. In the fashion industry, jewelry designer Jennifer Fisher was diagnosed with a desmoid tumor at age 30, which significantly impacted her career and personal life. She has publicly shared her story to raise awareness, including a 2024 interview detailing her diagnosis and a February 2025 collaboration with SpringWorks Therapeutics to encourage early action among patients with desmoid tumors. Dravecky's high-profile story has contributed to cultural awareness of aggressive fibromatosis through sports memoirs and , emphasizing resilience and the importance of ongoing for recurrence. Due to the condition's infrequency and associated stigma, most cases remain private, with limited public disclosure beyond .

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