The Succinate Dehydrogenase Genetic Testing in Patients with Extra-adrenal Paragangliomas: The Portuguese Cancer Center (Lisboa) Experience

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Introduction: Extra-adrenal paragangliomas (PGLs) occur as sporadic or familial entities, the latter mostly in association with germline mutations of the SDHB, SDHC or SDHD genes.

Aim(s): To evaluate the clinical and genetic features and assess the usefulness for genetic testing in this condition.

Materials and methods: We analyzed the mutational profile of SDHB, SDHC and SDHD genes in 38 patients with extra-adrenal PGLs (33 with head and neck PGLs and five with abdominal or pelvic PGLs) and reviewed the clinical reports.

Conference: 8th Annual ENETSConcerence (2011)

Presenting Author:

Authors: Domingues R, Santos R, Montalvão P, Magalhães M, Martins Bugalho M,

Keywords: paraganglioma, germline mutations, SDHB, SDHC, SDHD,

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