Carney triad: case report and molecular analysis of gastric tumor.
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.
Diment
Judith
J
Department of Pathology, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milan, Italy.
Tamborini
Elena
E
Casali
Paolo
P
Gronchi
Alessandro
A
Carney
J Aidan
JA
Colecchia
Maurizio
M
D000328:Adult; D004938:Esophageal Neoplasms / Q000378:metabolism / Q000473:pathology*; D005260:Female; D046152:Gastrointestinal Stromal Tumors / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D007889:Leiomyoma / Q000378:metabolism / Q000473:pathology*; D008479:Mediastinal Neoplasms / Q000378:metabolism / Q000473:pathology*; D010236:Paraganglioma, Extra-Adrenal / Q000378:metabolism / Q000473:pathology*; D016133:Polymerase Chain Reaction