Article
A subset of gastrointestinal stromal tumors previously regarded as wild-type tumors carries somatic activating mutations in KIT exon 8 (p.D419del).
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc - 1 Jul 2013
Huss Sebastian, Künstlinger Helen, Wardelmann Eva, Kleine Michaela A, Binot Elke, Merkelbach-Bruse Sabine, Rüdiger Thomas, Mittler Jens, Hartmann Wolfgang, Büttner Reinhard, Schildhaus Hans-Ulrich
Abstract excerpt
About 10-15% of gastrointestinal stromal tumors (GISTs) carry wild-type sequences in all hot spots of KIT and platelet-derived growth factor receptor alpha (PDGFRA) (wt-GISTs). These tumors are currently defined by having no mutations in exons 9, 11, 13, and 17 of the KIT gene and exons 12, 14, and 18 of the PDGFRA gene. Until now, the analysis of further exons is not recommended. However, we have previously...
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