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Difference between revisions of "Desmoid-type fibromatosis"
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Desmoid-type fibromatosis (view source)
Revision as of 02:31, 11 January 2016
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{{ Infobox diagnosis | {{ Infobox diagnosis | ||
| Name = {{PAGENAME}} | | Name = {{PAGENAME}} | ||
| Image = | | Image = Desmoid tumour - alt -- intermed mag.jpg | ||
| Width = | | Width = | ||
| Caption = Desmoid-type fibromatosis. [[H&E stain]]. | | Caption = Desmoid-type fibromatosis. [[H&E stain]]. | ||
| Micro = "sweeping fascicles"/bundles, spindle cells with small slender nuclei, solid dark eosinophilic cytoplasm, +/-mitoses, long thin-walled vessels - parallel to one another | | Micro = "sweeping fascicles"/bundles, spindle cells with small slender nuclei, solid dark eosinophilic cytoplasm, +/-mitoses, long thin-walled vessels - parallel to one another | ||
| Subtypes = | | Subtypes = Intra and extra-abdominal types are sometimes considered separately | ||
| LMDDx = [[hypertrophic scar]], [[gastrointestinal stromal tumour]], [[retroperitoneal fibrosis]], other [[fibromatoses]], [[nodular fasciitis]], [[schwannoma]] | | LMDDx = [[hypertrophic scar]], [[gastrointestinal stromal tumour]], [[retroperitoneal fibrosis]], other [[fibromatoses]], [[nodular fasciitis]], [[schwannoma]] | ||
| Stains = | | Stains = | ||
| Line 64: | Line 64: | ||
*[[Solitary fibrous tumour]] - may be a consideration for a collagenous desmoid. Desmoids should lack [[staghorn vessels]]. | *[[Solitary fibrous tumour]] - may be a consideration for a collagenous desmoid. Desmoids should lack [[staghorn vessels]]. | ||
*[[Inflammatory fibroid polyp]] - may be a consideration for tumors invading into bowel wall. | *[[Inflammatory fibroid polyp]] - may be a consideration for tumors invading into bowel wall. | ||
===Subtypes=== | |||
*Intra and extra-abdominal types are sometimes considered separately - somewhat different DDX. | |||
===Images=== | ===Images=== | ||
<gallery> | |||
Image: Desmoid tumour -- very low mag.jpg | DT - very low mag. | |||
Image: Desmoid tumour -- low mag.jpg | DT - low mag. | |||
Image: Desmoid tumour -- intermed mag.jpg | DT - intermed. mag. | |||
Image: Desmoid tumour - alt -- intermed mag.jpg | DT - intermed. mag. | |||
Image: Desmoid tumour -- high mag.jpg | DT - high mag. | |||
Image: Desmoid tumour -- very high mag.jpg | DT - very high mag. | |||
</gallery> | |||
<gallery> | <gallery> | ||
Image:DesmoidFibromatosis.JPG | Desmoid tumour. (WC) | Image:DesmoidFibromatosis.JPG | Desmoid tumour. (WC) | ||
| Line 90: | Line 102: | ||
*DOG1 -ve. | *DOG1 -ve. | ||
*CD34 -ve. | *CD34 -ve. | ||
===Images=== | |||
<gallery> | |||
Image: Desmoid tumour - beta-catenin -- intermed mag.jpg | DT - beta-catenin - intermed. mag. | |||
Image: Desmoid tumour - beta-catenin -- high mag.jpg | DT - beta-catenin - high mag. | |||
</gallery> | |||
==Molecular== | ==Molecular== | ||
*Point mutations in the CTNNB1 gene (encodes β-catenin).<ref>{{Cite journal | last1 = Lazar | first1 = AJ. | last2 = Tuvin | first2 = D. | last3 = Hajibashi | first3 = S. | last4 = Habeeb | first4 = S. | last5 = Bolshakov | first5 = S. | last6 = Mayordomo-Aranda | first6 = E. | last7 = Warneke | first7 = CL. | last8 = Lopez-Terrada | first8 = D. | last9 = Pollock | first9 = RE. | title = Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. | journal = Am J Pathol | volume = 173 | issue = 5 | pages = 1518-27 | month = Nov | year = 2008 | doi = 10.2353/ajpath.2008.080475 | PMID = 18832571 }}</ref> | *Point mutations in the CTNNB1 gene (encodes β-catenin).<ref>{{Cite journal | last1 = Lazar | first1 = AJ. | last2 = Tuvin | first2 = D. | last3 = Hajibashi | first3 = S. | last4 = Habeeb | first4 = S. | last5 = Bolshakov | first5 = S. | last6 = Mayordomo-Aranda | first6 = E. | last7 = Warneke | first7 = CL. | last8 = Lopez-Terrada | first8 = D. | last9 = Pollock | first9 = RE. | title = Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. | journal = Am J Pathol | volume = 173 | issue = 5 | pages = 1518-27 | month = Nov | year = 2008 | doi = 10.2353/ajpath.2008.080475 | PMID = 18832571 }}</ref> | ||
**~85% of sporadic desmoids | **~85% of sporadic desmoids <ref name=pmid23020601/> | ||
**β-catenin is abnormally stable. | |||
**β-catenin is abnormally stable.<ref>URL: [http://ghr.nlm.nih.gov/condition/desmoid-tumor http://ghr.nlm.nih.gov/condition/desmoid-tumor]. Accessed on: 4 October 2014.</ref> | |||
**β-catenin accumulates in the nucleus. | **β-catenin accumulates in the nucleus. | ||
*Loss of function mutation in the APC gene. | *Loss of function mutation in the APC gene. | ||
**~15% of sporadic desmoids. | **~15% of sporadic desmoids.<ref name=pmid23020601/> | ||
** All familial adenomatous polyposis associated desmoids. | ** All familial adenomatous polyposis associated desmoids. | ||
**APC product unavailable to interact with β-catenin. | **APC product unavailable to interact with β-catenin.<ref>URL: [http://ghr.nlm.nih.gov/condition/desmoid-tumor http://ghr.nlm.nih.gov/condition/desmoid-tumor]. Accessed on: 4 October 2014.</ref> | ||
**β-catenin is not broken down. | **β-catenin is not broken down. | ||
**β-catenin accumulates in the nucleus. | **β-catenin accumulates in the nucleus. | ||