Gastric Stromal Tumors in Carney Triad Are Different Clinically, Pathologically, Behaviorly, and Molecularly from Sporadic Gastric Gastrointestinal Stromal Tumors (GISTs): Findings in 104 Cases
L Zhang, TC Smyrk, WF Young, CA Stratakis, JA Carney. Mayo Clinic, Rochester, MN; NIH, Bethesda, MD
Background: Carney triad as originally described in 1977 was the association of 3 tumors: gastric epithelioid leiomyosarcoma (later renamed gastrointestinal stromal tumor [GIST]), extra-adrenal paraganglioma and pulmonary chondroma. The disorder affected mostly young women and was not familial.
Design: We identified 104 patients who had gastric gastrointestinal stromal tumor(s) and 1 or more of the following neoplasms: pulmonary chondroma, paraganglioma, esophageal leiomyoma, and adrenal adenoma. The clinical, pathologic, and immunohistochemical features of 104 tumors were studied.
Results: Most (88%) were young women (mean age, 22 years), and the usual presentation was gastric bleeding. The tumors, commonly antral-based (61%), were multifocal, and ranged from 0.2 to 18.0 cm in maximal dimension. Most (86%) featured round and polygonal (epithelioid) cells. Metastasis occurred in 49 patients (47%): to gastric lymph nodes (29%), liver (25%), and peritoneum (13%). Immunopositivity was detected in the tumors tested as follows: KIT, 100%; CD34, 75%; PKCθ, 21%; PDGFRA, 90%; and smooth muscle actin, 6%. Fourteen patients (13%) died of metastatic GIST at a mean age of 45 years (range, 30-69 years). Estimated 10- and 40-years survivals were 100% and 73%, respectively. Median survival time was 26.5 years (range 16-60 years). There was no correlation between the National Institutes of Health tumor risk classification and tumor behavior.
Conclusions: Compared with sporadic gastric GISTs, the gastric stromal tumor in Carney triad showed distinctive features: female predilection, young patient age, epithelioid cell predominance, multifocality, frequent lymph node metastasis, serial tumor occurrence, unpredictable behavior, and no KIT or PDGFRA mutations. Thus, the Carney triad gastric stromal tumor is different clinically, pathologically, behaviorly, and molecularly from sporadic gastric GIST.
Monday, March 22, 2010 11:15 AM
Platform Session: Section E, Monday Morning