Imatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13: A family report

dc.contributor.authorEngin, Gulgun
dc.contributor.authorEraslan, Serpil
dc.contributor.authorKayserili, Hulya
dc.contributor.authorKapran, Yersu
dc.contributor.authorAkman, Haluk
dc.contributor.authorAkyuz, Ali
dc.contributor.authorAykan, Nuri Faruk
dc.date.accessioned2023-02-21T12:38:57Z
dc.date.available2023-02-21T12:38:57Z
dc.date.issued2017-01-01
dc.description.abstractFamilial gastrointestinal stromal tumor (GIST) is a rare autosomal dominant disorder associated with mutations in the KIT gene in the majority of cases. Although, exon 11 appears to be the hot spot region for approximately 95\% of germline mutations, pathogenic variations have also been identified in exon 8, 13 and 17. Exon 13 germline mutations are extremely rare amongst familial GISTs and seven families with a germline mutation have been reported to date. Moreover, the role of imatinib mesylate in this rare familiar settings is not completely known so far. We describe here clinical, imaging, pathological and genetic findings of a family with four affected members
dc.description.abstractgrandmother, his son and two grand-sons having a germline gain-of-function mutation of KIT in exon 13 and discuss the imatinib mesylate treatment surveillance outcomes towards disease management.
dc.description.issue9
dc.description.issueSEP 28
dc.description.pages365-370
dc.description.volume9
dc.identifier.doi10.4329/wjr.v9.i9.365
dc.identifier.urihttps://hdl.handle.net/11443/2448
dc.identifier.urihttp://dx.doi.org/10.4329/wjr.v9.i9.365
dc.identifier.wosWOS:000413981400004
dc.publisherBAISHIDENG PUBLISHING GROUP INC
dc.relation.ispartofWORLD JOURNAL OF RADIOLOGY
dc.subjectGastrointestinal stromal tumor
dc.subjectFamilial
dc.subjectGermline mutation
dc.subjectImatinib
dc.subjectResponse
dc.titleImatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13: A family report
dc.typeArticle

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