FaCD Online Syndrome Fact Sheet

Last updated: 03 May 2012

Name: Carney Triad

Synonym: Carney syndrome

Mode of Inheritance: spor/ multifact?

Tumor features

adrenal adenoma
esophageal leiomyoma
esophageal stromal tumor
gastric leiomyosarcoma
gastric stromal sarcoma
paraganglioma, chromaffin (extra-adrenal pheochromocytoma)
pulmonary chondroma
small intestine, stromal tumor of

Tumor features (possible)

exostoses
leiomyosarcoma of the uterus
parathyroid adenoma
renal angiomyolipomas

Comment

The combination gastric stromal sarcoma, extra-adrenal active paraganglioma and pulmonary chondroma is referred to as Carney triad. Carney reviewed the 79 reported cases[1]: Approximately 85 % of the Carney triad patients are female. Age of onset ranged from 7 to 48 years (82% diagnosed before age 30); 78 % of the reported cases does not present with the complete triad but shows only 2 of the 3 features, the paragangliomas being the least frequent component. Although most cases are sporadic, a few familial cases have been reported, predominantly affected siblings[1,10]. Familial cases, but also some sporadic cases[11] may in fact represent Carney-Stratakis syndrome.

Gastric stromal sarcomas are usually the presenting tumor. The name (epithelioid) leiomyosarcoma was used in the past to refer to these tumors, but smooth muscle markers have not been identified in all cases, hence the change to ‘stromal sarcomas’. Negative immunohistochemistry for SDHB is a feature of the gastric stromal tumors in Carney-Stratakis syndrome as well as in Carney Triad[12]. To date, no SDHB germline mutations have been identified in Carney Triad patients.

The chondromas (diagnosed between 12 and 49 years) are multiple unilateral in 24% and bilateral in 13 % of cases and may be recognized more than 15 years earlier and more than 20 years later than the leiomyosarcomas. After surgery for the chondromas, one or more new tumors developed in 56 % of patients. Rodriguez et al reported the benign nature of the tumors and the fact that tey are different from pulmonary cartilaginous hamartomas[9].

The paragangliomas (diagnosed between age 12 to 48 years) are generally catecholamine secreting, they are present in multiple sites in 22% and may undergo malignant change. Silent adrenocortical adenomas were present in 13% of the patients and are considered part of the disorder. Other tumors observed were: esophageal leiomyoma and stromal tumor, duodenal (multiple) stromal tumors, uterine leiomyosarcoma, bony exostosis, renal angiomyolipoma, parathyroid adenomas, gluteal myoma.[1-8].

Patinets with Unfortunately, the name Carney syndrome is used by some to refer to the Carney Triad, whereas others use it to refer to Carney Complex (or LAMB or NAME syndrome), which is a completely different disorder.

References

[1] Carney JA. Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence [see comments]. Mayo Clin Proc 1999; 74(6):543-552.
[2] Convery RP, Grainger AJ, Bhatnagar NK, Scott D, Bourke SJ. Lung abscess complicating chondromas in Carney's syndrome. Eur.Resp.J. 11[6], 1409-1411. 1998.
[3] Carney JA. The triad of gastric epithelioid leiomyosarcoma, pulmonary chondroma, and functioning extra-adrenal paraganglioma: a five-year review. Medicine 1983; 62(3):159-169.
[4] Margulies KB, Sheps SG. Subspecialty clinics: hypertension Carney's triad: guidelines for management. Mayo Clin Proc 1988; 63:496-502.
[5] 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; 85(12):2557-2561.
[6] Scopsi L, Collini P, Muscolino G. A new observation of the carney's triad with long follow-up period and additional tumors. Cancer Detect Prev 1999; 23(5):435-443.
[7] Sans N, Durand G, Giron J, Fajadet P, Senac J. [Carney's triad: update and report of one case]. J Radiol 2000; 81(1):39-42.
[8] Diment J, Tamborini E, Casali P, Gronchi A, Carney JA, Colecchia M. Carney triad: case report and molecular analysis of gastric tumor. Human pathology 2005; 36(1):112-6.
[9] Rodriguez FJ, Aubry MC, Tazelaar HD, Slezak J, Carney JA. Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. The American journal of surgical pathology 2007; 31(12):1844-53.
[10] 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. Pediatric and developmental pathology 2004 Jul-Aug; 7(4):380-4.
[11] Alrashdi I, Bano G, Maher ER, Hodgson SV. Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. Fam Cancer. 2010 Sep;9(3):443-7.
[12] Gaal J, Stratakis CA, Carney JA, Ball ER, Korpershoek E, Lodish MB, Levy I, Xekouki P, van Nederveen FH, den Bakker MA, O'Sullivan M, Dinjens WN, de Krijger RR. SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. Mod Pathol. 2011 Jan;24(1):147-51.