FaCD Online Syndrome Fact Sheet

Last updated: 03 May 2012

Name: Carney-Stratakis syndrome

Synonym: Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad

Mode of Inheritance: AD

Genes

SDHB, mapped to 1p36.1-p35
SDHC, mapped to 1q21
SDHD, mapped to 11q23

Tumor features

gastric stromal sarcoma
gastrointestinal stromal tumor (GIST)
paraganglioma, chromaffin (extra-adrenal pheochromocytoma)
paraganglioma, nonchromaffin (incl.: glomus tumor/chemodectoma)
pheochromocytoma

Comment

Carney and Stratakis reported familial clustering of paraganglioma and gastric stromal sarcoma distinct from sporadic cases with Carney triad. Subsequently, germline mutations in the genes associated with familial paraganglioma were detected in this type of families.[2,3]. Negative immunohistochemistry for SDHB is a feature of the gastric stromal tumors in Carney-Stratakis syndrome as well as in the sporadic Carney Triad[4].

References

[1] Carney JA, Stratakis CA. Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. American journal of medical genetics 2002; 108(2):132-9.
[2] McWhinney SR, Pasini B, Stratakis CA, . Familial gastrointestinal stromal tumors and germ-line mutations. The New England journal of medicine 2007; 357(10):1054-6.
[3] Pasini B, McWhinney SR, Bei T, Matyakhina L, Stergiopoulos S, Muchow M, Boikos SA, Ferrando B, Pacak K, Assie G, Baudin E, Chompret A, Ellison JW, Briere JJ, Rustin P, Gimenez-Roqueplo AP, Eng C, Carney JA, Stratakis CA. 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. European journal of human genetics : EJHG 2008; 16(1):79-88.
[4] 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.