Familial gastrointestinal stromal tumors caused by the novel KIT exon 17 germline mutation N822Y

The American Journal of Surgical Pathology
Andreas ThalheimerEva Wardelmann

Abstract

Gastrointestinal stromal tumors (GISTs) are most often associated with oncogenic mutations of the KIT gene resulting in activation of the tyrosine kinase receptor KIT. Familial GIST syndrome based on a hereditary predisposition to develop GIST owing to a germline mutation is exceedingly rare. We describe a kindred with familial GIST displaying a novel germline mutation in exon 17. Three siblings (2 females, 1 male; 42 to 49 y) underwent surgery for multiple intra-abdominal tumors within a 3-year period. Their father had been operated on for gastric and jejunal tumors 20 years previously. The GIST was confirmed by immunohistochemistry in each sibling. Tumor and blood samples of the family members were analyzed for mutations in KIT and platelet-derived growth factor receptor (PDGFRalpha) genes. All examined lesions were of spindle cell type with expression of CD117. The tumor material exhibited a novel point mutation in codon 822 in exon 17 resulting in the replacement of asparagine by tyrosine (N822Y). The same mutation was detected in the father's blood sample. One healthy brother of the 3 siblings showed a wild-type sequence of the KIT gene. The germline mutation in exon 17 of the KIT gene identified in this kindred is very di...Continue Reading

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Citations

Nov 30, 2011·International Journal of Colorectal Disease·Alexander W BehamB Michael Ghadimi
Jan 5, 2010·Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association·Toshirou NishidaYasuaki Miyazaki
Jun 15, 2011·Histopathology·Newton A C S Wong
Jun 22, 2011·Experimental Hematology·Bartosz WasagJanusz Limon
Jul 21, 2016·Hereditary Cancer in Clinical Practice·Riccardo Ricci
Nov 16, 2011·Laboratory Investigation; a Journal of Technical Methods and Pathology·Mayumi NakaiSeiichi Hirota
Jul 29, 2009·Laboratory Investigation; a Journal of Technical Methods and Pathology·Takashi IshikawaSeiichi Hirota
Mar 9, 2020·Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association·Jun ArimaSeiichi Hirota
Feb 3, 2021·Diagnostics·Iva BrčićBernadette Liegl-Atzwanger

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