Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors

Two young women, each with paraganglioma and gastric stromal tumor, were encountered in the middle 1970s. One also had an adrenal cortical adenoma and the other pulmonary chondroma.

To test the hypothesis that the combination of tumors might represent a rare syndrome, similar cases were searched for. Five additional patients with gastric stromal tumor, paraganglioma, and pulmonary chondroma were found, and all were young women. None had a family history of the tumors. The combination of the three tumors was later referred to as the Carney triad. FEATURES OF THE SYNDROME: Among 77 patients with the syndrome, 85% were women and 15% were men. Onset ranged from 7 to 48 yr (mean, 20 yr). The gastric lesion was usually the presenting tumor (75%), followed by the lung lesion (15%) and the paraganglionic tumor (10%). Twenty percent of the patients had adrenocortical adenoma(s), and 10% had esophageal leiomyoma(s). All the tumors were multifocal. The gastric and paraganglionic tumors metastasized in one third and one tenth of the patients, respectively. The pulmonary tumors were asymptomatic and benign.

At follow-up, 80% of the patients were alive, two thirds with pulmonary chondroma, 25% with metastatic or residual gastric stromal tumor, and 5% with primary or metastatic paraganglioma. Twenty percent of the patients were dead, usually from metastatic gastric stromal tumor, less frequently from metastatic paraganglioma.

The Carney triad is a chronic, persistent, indolent but sometimes fatal disorder of unknown etiology.