Imatinib in the management of multiple gastrointestinal stromal tumors associated with a germline KIT K642E mutation

Janet Graham, Maria Debiec-Rychter, Christopher L. Corless, Robin Reid, Rosemarie Davidson, Jeff D. White

Research output: Contribution to journalArticle

37 Scopus citations

Abstract

• Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gut and are distinguished by expression of CD117 (c-Kit). Oncogenic mutations in the KIT or PDGFRA gene are detected in approximately 85% of sporadic GISTs. In recent years, examples of familial GIST have been reported in which germline mutations of KIT or PDGFRA result in multiple GISTs, skin disorders, and other abnormalities. The most common germline mutations are in KIT exon 11, mutations in exons 8 and 17 have also been described, and there are 2 families with germline PDGFRA mutations. We present a case in which a germline KIT exon 13 mutation (K642E) was discovered in a patient with multiple GISTs of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal. To our knowledge, this is only the second germline example of this particular mutation. The patient's esophageal tumors were stabilized with imatinib.

Original languageEnglish (US)
Pages (from-to)1393-1396
Number of pages4
JournalArchives of Pathology and Laboratory Medicine
Volume131
Issue number9
StatePublished - Sep 1 2007

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ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

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