Synonyms
Definition
A familial tumor syndrome inherited in an autosomal dominant fashion with incomplete penetrance, characterized by the development of both gastrointestinal stromal tumors and paragangliomas (or pheochromocytomas when arising from the adrenal medulla), with a greater frequency of paragangliomas compared to gastrointestinal stromal tumors. The syndrome was first described by Carney and Stratakis in 2002 with the associated genetic defects elucidated in 2007 by the International Carney Triad and Carney-Stratakis Syndrome Consortium.
Clinical Features
Incidence
Carney–Stratakis syndrome is rare, with approximately 20 unrelated family cases reported to date.
Age
Most patients affected by Carney–Stratakis syndrome are diagnosed in their third or fourth decades of life.
Sex
Both men and women are affected; however, females appear to be affected more frequently.
Site
Paragangliomas occurring in the context of Carney–Stratakis syndrome may...
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References and Further Reading
Boccon-Gibod, L., Boman, D., Boudiemaa, S., Fabre, M., Leverger, G., & Carney, J. A. (2004). Separate occurrence of extra-adrenal paraganglioma and gastrointestinal stromal tumor in monozygotic twins: Probable familial Carney syndrome. Pediatric and Developmental Pathology, 7, 380–384.
Carney, J. A., & Stratakis, C. A. (2002). Familial paraganglioma and gastric stromal sarcoma: A new syndrome distinct from the Carney triad. American Journal of Medical Genetics, 108, 132–139.
Duan, K., & Mete, O. (2017). Hereditary endocrine tumor syndromes: The Clinical and predictive role of molecular histopathology. AJSP: Reviews and Reports, 22, 246–268.
Gaal, J., Stratakis, C. A., Carney, J. A., Ball, E. R., Korpershoek, E., Lodish, M. B., Levy, I., Xekouki, P., van Nederveen, F. H., den Bakker, M. A., O’Sullivan, M., Dinjens, W. N., & de Krijger, R. R. (2011). SDHB immunohistochemistry: A useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. Modern Pathology, 24, 147–151.
Gill, A. J. (2012). Succinate dehydrogenase (SDH) and mitochondrial driven neoplasia. Pathology, 44, 285–292.
Khurana, A., Mei, L., Faber, A. C., Smith, S. C., & Boikos, S. A. (2019). Paragangliomas in Carney-Stratakis Syndrome. Hormone and Metabolic Research, 51, 437–442.
McWhinney, S. R., Pasini, B., & Stratakis, C. A. (2007). International Carney Triad and Carney-Stratakis Syndrome Consortium. Familial gastrointestinal stromal tumors and germ-line mutations. The New England Journal of Medicine, 357, 1054–1056.
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. (2008). 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, 16, 79–88.
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Hodgson, A., Pakbaz, S., Mete, O. (2020). Carney–Stratakis Syndrome. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_5216-1
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DOI: https://doi.org/10.1007/978-3-319-28845-1_5216-1
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