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Home > G. Tumoral pathology > desmoid fibromatosis

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desmoid fibromatosis

Subcutaneous desmoid fibromatosis Subcutaneous desmoid fibromatosis

Definition: Desmoid-type fibromatosis is a locally aggressive deep soft tissue tumor.

Desmoid tumors are benign neoplasms of the fibromatosis group. Desmoid tumors are fibrotic neoplasms of low metastatic potential. These tumors have long been associated with major laparotomy incisions.

Deep fibromatoses (desmoid tumors) are clonal myofibroblastic proliferations that are prone to aggressive local recurrences but that do not metastasize.

Desmoid fibromatoses must be distinguished from a host of fibroblastic and myofibroblastic lesions as well as from smooth muscle neoplasms.

Virtually all deep fibromatoses have somatic beta-catenin or adenomatous polyposis coli (APC) gene mutations leading to intranuclear accumulation of beta-catenin.

Types and ocalization

- abdominal desmoid fibromatosis

  • abdominal wall desmoid fibromatosis
    • thoracotomy and laparotomy incisions
    • laparoscopic trocar site
    • distal tubing of a cerebrospinal fluid shunt (2944238)

- extra-abdominal desmoid fibromatosis

  • limb desmoid tumours
    • extremity desmoid tumours

Microscopical synopsis

- extensive microcalcifications and psammoma bodies (3965088)

Predisposition

- Gardner syndrome (APC gene mutations)

Associations

- muscular dystrophy associated with extra-abdominal desmoid tumor showing aberrant chromosome 1 [46,XX,add(1)(p36)] (9508063)
- melorheostosis (8316873)

Variants

- nuchal-type fibroma appearance in a desmoid fibromatosis (11395565)
- extensive ossification (3098120)

Immunochemistry (16254103)

- negative for oestrogen receptor alpha -, HER2 -, and the progesterone receptor -
- androgen receptor +/-
- somatostatin +/-
- cathepsin D (100%)
- Ki-67 +/-

Differential diagnosis

- desmoplastic fibroblastoma
- spindle cell perineurioma
- low-grade fibromyxoid sarcoma
- infantile fibrosarcoma

Cytogenetics

- 5q rearrangements (deletion 5q) (APC gene at 5q22) (8976374)

- trisomy 8 (correlated with tumor recurrence) (30%) (9363449, 8976373, 8616800)
- trisomy 20 (30%) (8976373, 8616800, 7591262)

CGH

- normal (56% to 83%) (9739022, 14499689)

Losses

- 5q22 (APC)
- 6q16-q21 (14%) (14499689)
- 5q14 (11%) (9739022)
- 13q21-q31 (11%) (9739022)

Gains

- 1q21 (39%) (9739022)
- 9p12 (21%) (9739022)
- gain of chromosome 20 (32%) (14499689, 9739022)
- No high-level amplifications detected (9739022)

Molecular biology

Some cases are associated with adenosis polyposis coli germline mutations whereas others harbor somatic beta-catenin point mutations mainly in exon 3, codons 41 and 45. These mutations result in stabilization of beta-catenin, and activation of the Wnt signaling pathway.

- monoclonality (8816889, 9060600, 9098648)
- somatic mutations in the APC gene (8940264, 11768389)
- somatic mutations in the gene CTNNB1 coding for beta-catenin

Differential diagnosis

- fusiform cell tumors (spindle cell tumors)

References

- Amary MF, Pauwels P, Meulemans E, Roemen GM, Islam L, Idowu B, Bousdras K, Diss TC, O’Donnell P, Flanagan AM. Detection of beta-catenin mutations in paraffin-embedded sporadic desmoid-type fibromatosis by mutation-specific restriction enzyme digestion (MSRED): an ancillary diagnostic tool. Am J Surg Pathol. 2007 Sep;31(9):1299-309. PMID: 17721184

- Bhattacharya B, Dilworth HP, Iacobuzio-Donahue C, Ricci F, Weber K, Furlong MA, Fisher C, Montgomery E. Nuclear beta-catenin expression distinguishes deep fibromatosis from other benign and malignant fibroblastic and myofibroblastic lesions. Am J Surg Pathol. 2005 May;29(5):653-9. PMID: 15832090

- Leithner A, Gapp M, Radl R, Pascher A, Krippl P, Leithner K, Windhager R, Beham A. Immunohistochemical analysis of desmoid tumours. J Clin Pathol. 2005 Nov;58(11):1152-6. PMID: 16254103

- Brandal P, Micci F, Bjerkehagen B, Eknaes M, Larramendy M, Lothe RA, Knuutila S, Heim S. Molecular cytogenetic characterization of desmoid tumors. Cancer Genet Cytogenet. 2003 Oct 1;146(1):1-7. PMID: 14499689

- Allen PW. Nuchal-type fibroma appearance in a desmoid fibromatosis. Am J Surg Pathol. 2001 Jun;25(6):828-9. PMID: 11395565

- Shitoh K, Konishi F, Iijima T, Ohdaira T, Sakai K, Kanazawa K, Miyaki M. A novel case of a sporadic desmoid tumour with mutation of the beta catenin gene. J Clin Pathol. 1999 Sep;52(9):695-6. PMID: 10655994

- Lucas DR, Shroyer KR, McCarthy PJ, Markham NE, Fujita M, Enomoto TE. Desmoid tumor is a clonal cellular proliferation: PCR amplification of HUMARA for analysis of patterns of X-chromosome inactivation. Am J Surg Pathol. 1997 Mar;21(3):306-11. PMID: 9060600

- Fromowitz FB, Hurst LC, Nathan J, Badalamente M. Infantile (desmoid type) fibromatosis with extensive ossification. Am J Surg Pathol. 1987 Jan;11(1):66-75. PMID: 3098120

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