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- Title
Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib.
- Authors
Ingley, K. M.; Zatzman, M.; Fontebasso, A. M.; Lo, W.; Subasri, V.; Goldenberg, A.; Li, Y.; Davidson, S.; Kanwar, N.; Waldman, L.; Brunga, L.; Babichev, Y.; Demicco, E. G.; Gupta, A.; Szybowska, M.; Thipphavong, S.; Malkin, D.; Villani, A.; Shlien, A.; Gladdy, R. A.
- Abstract
Familial gastrointestinal stromal tumors (GIST) are rare. We present a kindred with multiple family members affected with multifocal GIST who underwent whole genome sequencing of the germline and tumor. Affected individuals with GIST harbored a germline variant found within exon 13 of the KIT gene (c.1965T>G; p.Asn655Lys, p.N655K) and a variant in the MSR1 gene (c.877 C > T; p.Arg293*, pR293X). Multifocal GISTs in the proband and her mother were treated with preoperative imatinib, which resulted in severe intolerance. The clinical features of multifocal GIST, cutaneous mastocytosis, allergies, and gut motility disorders seen in the affected individuals may represent manifestations of the multifunctional roles of KIT in interstitial cells of Cajal or mast cells and/or may be suggestive of additional molecular pathways which can contribute to tumorigenesis.
- Publication
NPJ Genomic Medicine, 2024, Vol 9, Issue 1, p1
- ISSN
2056-7944
- Publication type
Article
- DOI
10.1038/s41525-024-00405-z