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

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dc.authoridNuri Faruk Aykan / 0000-0002-5472-3218
dc.authorscopusidNuri Faruk Aykan / 57219836263
dc.authorwosidNuri Faruk Aykan / I-6425-2019
dc.contributor.authorEngin, Gülgün
dc.contributor.authorEraslan, Serpil
dc.contributor.authorKayserili, Hülya
dc.contributor.authorKapran, Yersu
dc.contributor.authorAkman, Haluk
dc.contributor.authorAkyüz, Ali
dc.contributor.authorAykan, Nuri Faruk
dc.date.accessioned2020-08-30T20:08:03Z
dc.date.available2020-08-30T20:08:03Z
dc.date.issued2017
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
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; grandmother, 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.en_US
dc.identifier.citationEngin, G., Eraslan, S., Kayserili, H., Kapran, Y., Akman, H., Akyuz, A., & Aykan, N. F. (2017). Imatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13: A family report. World journal of radiology, 9(9), 365.en_US
dc.identifier.doi10.4329/wjr.v9.i9.365en_US
dc.identifier.endpage370en_US
dc.identifier.issn1949-8470en_US
dc.identifier.issue9en_US
dc.identifier.pmid29098070en_US
dc.identifier.startpage365en_US
dc.identifier.urihttps://doi.org/10.4329/wjr.v9.i9.365
dc.identifier.urihttps://hdl.handle.net/20.500.12713/876
dc.identifier.volume9en_US
dc.identifier.wosWOS:000413981400004en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorAykan, Nuri Faruken_US
dc.language.isoenen_US
dc.publisherBaishideng Publishing Group Incen_US
dc.relation.ispartofWorld Journal of Radiologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectGastrointestinal Stromal Tumoren_US
dc.subjectFamilialen_US
dc.subjectGermline Mutationen_US
dc.subjectImatiniben_US
dc.subjectResponseen_US
dc.titleImatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13: A family reporten_US
dc.typeArticleen_US

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