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 ENETS Conference (2011)
Presenting Author: Rita Domingues
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