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Carney triad

MIM.604287

Tuesday 16 March 2004

Definition: Carney triad, as originally described in 1977, is the association of 3 tumors:
- gastric gastrointestinal stromal tumor (gastric GIST) (ex-gastric epithelioid leiomyosarcoma),
- extra-adrenal paraganglioma,
- pulmonary chondroma.

Or: 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#)

  • GIST in Carney triad are different from sporadic gastric gastrointestinal stromal tumors (#19935059#)
  • Compared with sporadic gastric GISTs, the gastric stromal tumor in Carney triad showed distinctive features: female predilection, young patient age, epithelioid cell predominance, multifocality, frequent lymph node metastasis, serial tumor occurrence, and unpredictable behavior. (#19935059#)

- functioning extra-adrenal paragangliomas
- pulmonary chondroma
- non-functioning or low-secreting adrenocortical adenoma (#23681078#)

Differential diagnosis

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

CGH

- 1q12-q21 deletion

  • candidate gene: SDHC

- loss of 1p

Etiology

The paraganglioma and gastric stromal sarcoma association can be caused by mutation in the SDHB (MIM.185470), SDHC (MIM.602413), and SDHD (MIM.602690) genes.

- Carney triad (MIM.604287) (#23681078#)

See also

- adrenocortical tumors

References

- Adrenal Cortical Adenoma: The Fourth Component of the Carney Triad and an Association With Subclinical Cushing Syndrome. Carney JA, Stratakis CA, Young WF Jr. Am J Surg Pathol. 2013 May 15. PMID: #23681078#

- Gastric Stromal Tumors in Carney Triad Are Different Clinically, Pathologically, and Behaviorally From Sporadic Gastric Gastrointestinal Stromal Tumors: Findings in 104 Cases. Zhang L, Smyrk TC, Young WF Jr, Stratakis CA, Carney JA. Am J Surg Pathol. 2009 Nov 20. PMID: #19935059#

- Pasini, B.; McWhinney, S. R.; Bei, T.; Matyakhina, L.; Stergiopoulos, S.; Muchow, M.; Boikos, S. A.; Ferrando, B.; Pacak, K.; Assie, G.; Baudin, E.; Chompret, A.; Ellison, J. W.; Briere, J.-J.; Rustin, P.; Gimenez-Roqueplo, A.-P.; Eng, C.; Carney, J. A.; Stratakis, C. A. : Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Europ. J. Hum. Genet. 16: 79-88, 2008. PubMed ID : #17667967#

- McWhinney, S. R.; Pasini, B.; Stratakis, C. A. : Familial gastrointestinal stromal tumors and germ-line mutations. (Letter) New Eng. J. Med. 357: 1054-1056, 2007. PubMed ID : 17804857

- 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. PMID: #15383933#

- Carney, J. A.; Stratakis, C. A. : Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. Am. J. Med. Genet. 108: 132-139, 2002. PubMed ID : #11857563#

- 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#