The Case of the Index Patient of Carney Triad

A Clinical Puzzle With an Epigenetic Solution

Abstract

Carney triad is a rare, multitumoral, nonfamilial syndrome of unknown etiology. First described in 1977, it features epithelioid gastrointestinal stromal tumor, pulmonary chondroma, and extra-adrenal paraganglioma. It predominantly affects young females. The disorder is indolent, persistent, chronic, and ultimately fatal. The index patient of the syndrome recently died of the disorder 50 years after resection of her first tumor. She had 26 surgical procedures, including total gastrectomy, resection of multiple paragangliomas, and excision of pulmonary chondromas, and more than 20 changes of biliary drainage tubes before her death at age 63 years. Despite all these interventions, she led a normal and productive life. She was particularly concerned that her experiences contribute to the care of other similarly affected patients. Just at the time of her death, the etiology of Carney triad, which had defied elucidation, was finally emerging.