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Difference between revisions of "Desmoid-type fibromatosis"
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Desmoid-type fibromatosis (view source)
Revision as of 10:05, 4 October 2014
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==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> | |||
**~85% Sporadic desmoids | |||
** | **Constitutive function mutations - β-catenin activity never turns off. | ||
* | **β-catenin accumulates in the nucleus. | ||
*Loss of function mutation in the APC gene. | |||
** | **~15% of sporadic desmoids APC gene. | ||
**Constitutively active β-catenin. | ** All familial adenomatous polyposis associated desmoids. | ||
**APC product unavailable to interact with β-catenin. | |||
**β-catenin is not broken down. | |||
**Constitutively active β-catenin | |||
**β-catenin accumulates in the nucleus. | |||
==Sign out== | ==Sign out== | ||