Gastrointestinal Stromal Tumor (GIST)

Carney-Stratakis Syndrome

Mean age 23
- Males and females affected
Nearly all stomach
- Frequently multiple and multinodular
GIST may metastasize to lymph nodes
- Usually protracted, indolent course (e.g. 15 years) in most cases even with metastasis or recurrence
Paragangliomas frequently aggressive
Presentation (except for the triad features), pathology and behavior are essentially the same as Carney Triad and sporadic SDHB deficient (pediatric type) GIST
- Must exclude NF1 and Carney Triad

Carney JA, Stratakis CA. Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. Am J Med Genet. 2002 Mar 1;108(2):132-9.
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. Eur J Hum Genet. 2008 Jan;16(1):79-88.
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.