Carney triad can be (rarely) associated with germline succinate dehydrogenase defects View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-04

AUTHORS

Sosipatros A Boikos, Paraskevi Xekouki, Elena Fumagalli, Fabio R Faucz, Margarita Raygada, Eva Szarek, Evan Ball, Su Young Kim, Markku Miettinen, Lee J Helman, J Aidan Carney, Karel Pacak, Constantine A Stratakis

ABSTRACT

Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas, is a sporadic condition that is significantly more frequent in females; its genetic etiology remains unknown. Carney triad is distinct from the dyad of paragangliomas/pheochromocytomas and gastrointestinal stromal tumors, known as Carney-Stratakis syndrome, which is inherited in an autosomal- dominant manner and is almost always caused by succinate dehydrogenase subunit mutations. In the present study, we investigated the largest cohort of Carney triad patients that is available internationally: 63 unrelated patients. Six patients (9.5%) were found to have germline variants in the SDHA, SDHB or SDHC genes. All six patients, except one, had multifocal gastrointestinal stromal tumors, chondromas and/or paragangliomas. A patient with Carney triad and SDHC variant had a ganglioneuroma. One of the patients with Carney triad and SDHB mutation had a nephew with the same sequence defect, who developed a neuroblastoma. Other relatives, carriers of the identified SDHA, SDHB or SDHC mutations, have not developed any of the components of Carney triad or Carney-Stratakis syndrome. None of the other 57 Carney triad patients had any genomic defects of SDHA, SDHB or SDHC genes. We conclude that, in rare occasions, Carney triad can be allelic to Carney-Stratakis syndrome. Although for the vast majority of patients with Carney triad the causative defect(s) remain(s) unknown, testing for SDHA, SDHB or SDHC variations should be offered, as carriers may develop isolated paragangliomas/pheochromocytomas and occasionally other tumors. More... »

PAGES

569-573

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2015.142

DOI

http://dx.doi.org/10.1038/ejhg.2015.142

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1046340851

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26173966


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