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

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

Research output: Contribution to journalArticle

36 Citations (Scopus)

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 2007

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Gastrointestinal Stromal Tumors
Germ-Line Mutation
Mutation
Exons
Interstitial Cells of Cajal
Rectum
Esophagus
Small Intestine
Hyperplasia
Neoplasms
Imatinib Mesylate
Skin
Genes

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology
  • Medicine(all)

Cite this

Imatinib in the management of multiple gastrointestinal stromal tumors associated with a germline KIT K642E mutation. / Graham, Janet; Debiec-Rychter, Maria; Corless, Christopher; Reid, Robin; Davidson, Rosemarie; White, Jeff D.

In: Archives of Pathology and Laboratory Medicine, Vol. 131, No. 9, 09.2007, p. 1393-1396.

Research output: Contribution to journalArticle

Graham, Janet ; Debiec-Rychter, Maria ; Corless, Christopher ; Reid, Robin ; Davidson, Rosemarie ; White, Jeff D. / Imatinib in the management of multiple gastrointestinal stromal tumors associated with a germline KIT K642E mutation. In: Archives of Pathology and Laboratory Medicine. 2007 ; Vol. 131, No. 9. pp. 1393-1396.
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