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Difference between revisions of "Desmoid-type fibromatosis"
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Desmoid-type fibromatosis (view source)
Revision as of 06:55, 3 October 2014
, 06:55, 3 October 2014→Molecular
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==Molecular== | ==Molecular== | ||
*Sporadic desmoids | *Sporadic desmoids: | ||
**Point mutations in the CTNNB1 gene | **Point mutations in the CTNNB1 gene (encodes β-catenin) present in 85% of cases.<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> | ||
**Constitutively active β-catenin. | **Constitutively active β-catenin. | ||
*Syndromic desmoids (~5%): | *Syndromic desmoids (~5%): | ||
**Loss of function mutation in | **Loss of function mutation in APC. | ||
**Loss of breakdown of β-catenin. | **Loss of breakdown of β-catenin. | ||
**Constitutively active β-catenin. | **Constitutively active β-catenin. | ||