Journal
WORLD JOURNAL OF RADIOLOGY
Volume 9, Issue 9, Pages 365-370Publisher
BAISHIDENG PUBLISHING GROUP INC
DOI: 10.4329/wjr.v9.i9.365
Keywords
Gastrointestinal stromal tumor; Familial; Germline mutation; Imatinib; Response
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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.
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