Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Carney syndrome (Carney Triad) was originally proposed to describe cases involving the coexistence of several neoplasms, including: gastric epithelioid leiomyosarcoma, pulmonary chondroma, and extra-adrenal paraganglioma.[1]
Recent advances in molecular biology have demonstrated that the so-called gastric epithelioid leiomyosarcomas, in fact, represent gastrointestinal stromal tumours (GISTs).[2] This distinction is important amongst physicians. Pathologists, in addition to examining the conventional morphology of the tumour using a microscope, will 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 Syndrome lack c-kit mutations (i.e., they are wild-type), hence may prove unresponsive to this medication.[3]
Occasionally Carney syndrome is erroneously used by physicians to describe Carney complex, or vice versa;[4][5][6] however, these terms represent two entirely distinct entities. Carney Complex, simply stated, describes 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 naevus. [7][8]
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