Desmoid-type fibromatosis

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Desmoid-type fibromatosis
Diagnosis in short

Desmoid-type fibromatosis. H&E stain.

LM "sweeping fascicles"/bundles, spindle cells with small slender nuclei, solid dark eosinophilic cytoplasm, +/-mitoses, long thin-walled vessels - parallel to one another
LM DDx hypertrophic scar, gastrointestinal stromal tumour, retroperitoneal fibrosis, other fibromatoses, nodular fasciitis, schwannoma
IHC beta-catenin +ve (nuclear), SMA +ve/-ve, CD117 -ve
Site soft tissue

Syndromes familial adenomatous polyposis - esp. Gardner syndrome

Prevalence uncommon
Prognosis benign but locally aggressive
Clin. DDx trauma/hematoma

Desmoid-type fibromatosis is a benign soft tissue lesion in the fibroblastic/myofibroblastic group of tumours.

It is also known as desmoid tumour and desmoid fibromatosis.

General

Gross

Features:[2]

  • Location:
    • Abdominal wall, proximal extremities - classic for adolescents and women.
    • Head and neck - classic for children.
  • Circumscribed mass.
  • May be quite large (>10 cm).

Microscopic

Features:[2][3]

  • "Sweeping fascicles"/bundles.
  • Spindle cells with:
    • Small slender nuclei.
    • Solid dark eosinophilic cytoplasm.
  • +/-Mitoses - may be abundant.
  • Long thin-walled vessels - parallel to one another - important feature.

DDx:

Images

www:

  • Desmoid tumour (surgicalpathologyatlas.com).
  • Desmoid tumour (cheapmedicinechest.com).[6]
  • Desmoid tumour (radiographics.rsna.org).
  • Desmoid-type fibromatosis (nih.gov).[7]
  • [File:SoftTissue ChestWall DesmoidFirbomatosis MP CTR.jpg|thumb|Classic desmoid fibromatosis with delicate curving vessels and sweeping long fascicles.]
  • [File:SoftTissue DesmoidFibromatosis KelioidFx MP2 CTR.jpg|thumb|This example of desmoid fibromatosis shows a keloidal collagenous stroma and may evoke keloidal scar or even solitary fibrous tumor.]
  • [File:SoftTissue DesmoidFibromatosis GiantCell MP PA.jpg|thumb|Giant cells are an unusual but occasional component of desmoid fibromatosis. Sometimes the giant cells are histiocytic, sometimes they are entrapped rhabdomyocytes.]
  • [File:Pancreas DesmoidFibromatosis MP CTR.jpg|thumb|Intra-abdominal desmoids can overrun vital organs; in this case, the pancreas.]
  • [File:Peritoneum Desmoid Intraabdominal LP.JPG|thumb|Intraabdominal desmoids can extend through the bowel to the mucosa and provoke ulceration.]

IHC

Features:[2]

  • Beta-catenin +ve (nuclear[4]) - important.
    • 100% sensitive... may not be completely specific (?).[8]
  • SMA +ve ~50% of lesions.

Others:

  • CD117 -ve.

Sign out

LESION, ABDOMINAL WALL, BIOPSY:
- DESMOID-TYPE FIBROMATOSIS.

COMMENT:
The tumour stains strongly with beta-catenin and weakly with SMA. It is negative for CD117.

See also

References

  1. URL: http://www.dtrf.org/dtrf_aboutdesmoids.htm. Accessed on: 15 April 2011.
  2. 2.0 2.1 2.2 Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 609. ISBN 978-0781765275.
  3. URL: http://www.surgicalpathologyatlas.com/glfusion/mediagallery/media.php?f=0&sort=0&s=20090717111548196. Accessed on: 4 October 2011.
  4. 4.0 4.1 4.2 Huss, S.; Nehles, J.; Binot, E.; Wardelmann, E.; Mittler, J.; Kleine, MA.; Künstlinger, H.; Hartmann, W. et al. (Jan 2013). "β-catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis.". Histopathology 62 (2): 294-304. doi:10.1111/j.1365-2559.2012.04355.x. PMID 23020601.
  5. Thalheimer, A.; Meyer, D.; Gattenlöhner, S.; Timmermann, W.; Thiede, A. (Jul 2004). "[Gastrointestinal stromal tumor of the abdominal wall. An unusual localization of a rare tumor].". Chirurg 75 (7): 708-12. doi:10.1007/s00104-003-0696-5. PMID 15257404.
  6. URL: http://www.cheapmedicinechest.com/abdominal-pain-and-colonic-obstruction-from-an-intra-abdominal-desmoid-tumor.html. Accessed on: 4 October 2011.
  7. Ma, JH.; Ma, ZH.; Dong, XF.; Yin, H.; Zhao, YF. (Jun 2013). "Abdominal wall desmoid tumors: A case report.". Oncol Lett 5 (6): 1976-1978. doi:10.3892/ol.2013.1297. PMID 23833679.
  8. Amary, MF.; Pauwels, P.; Meulemans, E.; Roemen, GM.; Islam, L.; Idowu, B.; Bousdras, K.; Diss, TC. et al. (Sep 2007). "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 31 (9): 1299-309. doi:10.1097/PAS.0b013e31802f581a. PMID 17721184.