Carneys triad is a very rare syndrome, which comprises three tumors of different origin: gastrointestinal stromal tumor (GIST), thoracic chondroma and extraadrenal pheochromocytoma. It is found mainly in young female patients with blood group A. Two of the tumors need to be present for the diagnosis.
Here we present the case of a 58-year-old male with blood group B. In July 2004 patient underwent resection of a part of small intestine with two GISTs removed. In July 2005 he had a tumor in left atrium, histologically chondroma. In October 2006 CT scans revealed a pathological mass in left atrium, but in a different location than in 2005. A high concentration of chromogranin A 379.3 (N: 040 ng/ml) was found in February 2007. However no pathological masses were found in abdominal CT. Also MIBG scintigraphy did not revealed any paraganglioma.
In most previously presented cases chondroma was found in the lungs. However, the presence of multiple GISTs and chodroma in the heart in a man with blood group B induced us to concede this case as a rare case of Carneys triad.
Prague, Czech Republic
24 - 28 Apr 2010
European Society of Endocrinology