Human pathology

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Carney triad

MIM.604287

Ent. 1977; Nom. 1977.

Association of gastric leiomyosarcoma (epithelioid leiomyosarcoma), functioning extraadrenal paraganglioma, and pulmonary chondroma. (The Carney syndrome terminology is avoided because it can be confused with the Carney complex.)

Synopsis

- gastric GIST (gastrointestinal stroma tumors) (ex-gastric leiomyosarcoma) (15712189)
- functioning extra-adrenal paragangliomas
- pulmonary chondroma
- nonfunctioning adrenocortical adenoma

Differential diagnosis

- familial paraganglioma and gastric stromal sarcoma association (11857563, 15383933)

CGH

- 1q12-q21 deletion

  • candidate gene: SDHC

- loss of 1p

References

- Matyakhina L, Bei TA, McWhinney SR, Pasini B, Cameron S, Gunawan B, Stergiopoulos SG, Boikos S, Muchow M, Dutra A, Pak E, Campo E, Cid MC, Gomez F, Gaillard RC, Assie G, Fuzesi L, Baysal BE, Eng C, Carney JA, Stratakis CA. Genetics of Carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors. J Clin Endocrinol Metab. 2007 May 29; PMID: 17535989

- 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 Jul-Aug;7(4):380-4. Epub 2004 Jul 15. PMID: 15383933

- Carney JA. Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. Mayo Clin Proc. 1999 Jun;74(6):543-52. PMID: 10377927

- Kiryu T, Kawaguchi S, Matsui E, Hoshi H, Kokubo M, Shimokawa K. Multiple chondromatous hamartomas of the lung: a case report and review of the literature with special reference to Carney syndrome.Cancer. 1999 Jun 15;85(12):2557-61. PMID: 10375102