Carney triad: Case report and molecular analysis of gastric tumor

Research output: Contribution to journalArticle

Abstract

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the GI tract. Most of them are thought to be sporadic, but some arise in the settings of neurofibromatosis type I (NF-1) and the Carney triad. The Carney triad is a syndrome of unknown etiology, occurring predominantly in young females, comprising gastrointestinal stromal tumors, pulmonary chondromas, and extra-adrenal paragangliomas. GISTs of the Carney triad involve predominantly the body and the antrum of the stomach, are generally multifocal, and have a better prognosis than sporadic GISTs. We describe the clinical and pathological features of a case of Carney triad that featured multiple gastric GISTs, mediastinal paraganglioma, and esophageal leiomyoma. Ten years after gastric resection, the patient developed liver and peritoneal metastasis and was treated with Imatinib mesylate for 6 months with no change in the lesions. The molecular analysis of the GIST, the first reported in a gastric tumor from the triad, showed a wild-type KIT and PDGFRA genes.

Original languageEnglish
Pages (from-to)112-116
Number of pages5
JournalHuman Pathology
Volume36
Issue number1
DOIs
Publication statusPublished - Jan 2005

Keywords

  • Carney triad
  • Case report
  • GIST
  • Molecular analysis

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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