Carney Triad describes the coexistence of several neoplasms, mainly in young women,[1] including: gastric epithelioid leiomyosarcoma (these are now known to actually be malignant gastrointestinal stromal tumors), pulmonary chondroma, and extra-adrenal paraganglioma.[2]
Recent advances in molecular biology have demonstrated that the so-called gastric epithelioid leiomyosarcomas actually are gastrointestinal stromal tumors (GISTs).[3] This distinction is important as it affects treatment choices. Pathologists, in addition to examining the conventional histological morphology of the tumour using a microscope, now use a special diagnostic technique called immunohistochemistry to detect the expression of the molecule CD117 (c-kit) to confirm the diagnosis. Clinicians, in turn, typically treat these tumors with a drug that specifically targets mutations in c-kit, called Gleevec; however, there is limited evidence to suggest that GISTs in Carney triad lack c-kit mutations (i.e., they are wild-type), and hence may prove unresponsive to this medication.[4]
Multiple tumors in multiple organs in young patients, with occasional sibling involvement, suggested an inherited disorder, but this has not been found.[1]
Although both syndromes were described by J. Aiden Carney, the Carney complex is entirely different.[5] It is a multiple neoplasia syndrome that is generally characterized by myxomatous neoplasms (cardiac, endocrine, cutaneous and neural), and a host of pigmented lesions of the skin and mucosae, including the rarely occurring epitheloid blue nevus.[6][7]