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Difference between revisions of "Desmoid-type fibromatosis"
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Desmoid-type fibromatosis (view source)
Revision as of 23:37, 9 October 2014
, 23:37, 9 October 2014→Molecular
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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> | *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>{{Cite journal | last1 = Huss | first1 = S. | last2 = Nehles | first2 = J. | last3 = Binot | first3 = E. | last4 = Wardelmann | first4 = E. | last5 = Mittler | first5 = J. | last6 = Kleine | first6 = MA. | last7 = Künstlinger | first7 = H. | last8 = Hartmann | first8 = W. | last9 = Hohenberger | first9 = P. | title = β-catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. | journal = Histopathology | volume = 62 | issue = 2 | pages = 294-304 | month = Jan | year = 2013 | doi = 10.1111/j.1365-2559.2012.04355.x | PMID = 23020601 }}<ref> | ||
**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 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. | ||