Home > G. Tumoral pathology > desmoid fibromatosis

desmoid fibromatosis

Monday 1 March 2004

Digital cases

- HPC:219 : Desmoid fibromatosis
- UI:868 - Abdominal desmoid fibromatosis.
- JRC:2270 : Soft tissues (buttock) desmoid fibromatosis.
- JRC:5315 : Mammary 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#)
  • intra-abdominal desmoid fibromatosis
    • mesenteric desmoid fibromatosis (mesenteric fibromatosis)

- extra-abdominal desmoid fibromatosis

  • thoracic desmoid fibromatosis
    • mediastinal desmoid fibromatosis (#12467833#, #10823440#)
    • paraspinal 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)

  • desmoid fibromatosis (deep fibromatosis)
  • leiomyosarcoma
  • myofibrosarcoma
  • sclerosing epithelioid fibrosarcoma
  • low-grade fibrosarcoma
  • classic fibrosarcoma
  • inflammatory myxohyaline/myxoinflammatory fibroblastic sarcoma
  • nodular fasciitis
  • synovial sarcoma
  • inflammatory myofibroblastic tumor
  • keloid
  • other fibromatoses
    • infantile myofibromatosis
    • superficial fibromatoses (palmar fibromatosis, plantar fibromatosis, penile fibromatosis)

References

- ╬▓-Catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. Huss S, Nehles J, Binot E, Wardelmann E, Mittler J, Kleine MA, K├╝nstlinger H, Hartmann W, Hohenberger P, Merkelbach-Bruse S, Buettner R, Schildhaus HU. Histopathology. 2013 Jan;62(2):294-304. doi: 10.1111/j.1365-2559.2012.04355.x . PMID: #23020601#

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

- Nuclear beta-catenin expression distinguishes deep fibromatosis from other benign and malignant fibroblastic and myofibroblastic lesions. Bhattacharya B, Dilworth HP, Iacobuzio-Donahue C, Ricci F, Weber K, Furlong MA, Fisher C, Montgomery E. 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#

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

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

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

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

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

Portfolio

  • Desmoid fibromatosis. Macroscopy.
  • Desmoid fibromatosis. Macroscopy.
  • Subcutaneous desmoid fibromatosis
  • Subcutaneous desmoid fibromatosis
  • Subcutaneous desmoid fibromatosis
  • Subcutaneous desmoid fibromatosis
  • Cervical desmoid fibromatosis
  • Cervical desmoid fibromatosis
  • Cervical desmoid fibromatosis
  • Cervical desmoid fibromatosis
  • Cervical desmoid fibromatosis
  • Cervical desmoid fibromatosis
  • Cervical desmoid fibromatosis
  • Parosteal desmoid fibromatosis