Imatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13: A family report
Yükleniyor...
Dosyalar
Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Baishideng Publishing Group Inc
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Familial 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.
Açıklama
Anahtar Kelimeler
Gastrointestinal Stromal Tumor, Familial, Germline Mutation, Imatinib, Response
Kaynak
World Journal of Radiology
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
9
Sayı
9
Künye
Engin, 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.
