Carney syndrome

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DiseasesDB = 31576
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eMedicineSubj = derm
eMedicineTopic = 805
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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. [Carney JA. The triad of gastric epithelioid leiomyosarcoma, pulmonary chondroma, and functioning extra-adrenal paraganglioma: a five-year review. Medicine (Baltimore). 1983;62(3): 159-169.]

Recent advances in molecular biology have demonstrated that the so-called gastric epithelioid leiomyosarcomas, in fact, represent gastrointestinal stromal tumours (GISTs). [Boccon-Gibod L, Boman F, Boudjemaa S, Fabre M, Leverger G, Carney AJ. Separate occurrence of extra-adrenal paraganglioma and gastrointestinal stromal tumor in monozygotic twins: probable familial Carney syndrome. Pediatr Dev Pathol. 2004;7(4):380-4.] 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. [Diment J, Tamborini E, Casali P, Gronchi A, Carney JA, Colecchia M. Carney triad: case report and molecular analysis of gastric tumor. Hum Pathol. 2005;36(1):112-6.]

Occasionally Carney syndrome is erroneously used by physicians to describe Carney complex, or "vice versa"; [ [http://www.emedicine.com/derm/topic805.htm eMedicine - Carney Syndrome : Article by Robert A Schwartz ] ] [Rosai J. Surgical Pathology, 9th Ed. Mosby: China. 2004; p.117.] [Nwokoro NA, Korytkowski MT, Rose S, Gorin MB, Penles Stadler M, Witchel SF, Mulvihill JJ. Spectrum of malignancy and premalignancy in Carney syndrome. Am J Med Genet. 1997;73(4):369-77.] 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. [Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore). 1985;64(4):270-83.] [Iglesias C, Torrelo A, Colmenero I, Mediero IG, Zambrano A, Requenca L. Isolated multiple congential epithelioid blue naevus. British Journal of Dermatology 2005;152:391-393.]

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