Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

ABSTRACT:

Purpose

Succinate dehydrogenase B (SDHB) associated pheochromocytomas (PHEOs) are associated with a higher risk of tumor aggressiveness and malignancy. The aim of the present study was to evaluate (1) the frequency of germline SDHB mutations in apparently sporadic patients with PHEO who undergo preoperative genetic testing and (2) the ability to predict pathogenic mutations.

Methods

From 2012 to 2016, 82 patients underwent a PHEO surgical resection. Sixteen were operated in the context of hereditary PHEO and were excluded from analysis. Among the 66 remaining cases, 48 were preoperatively screened for an SDHB mutation. In addition to imaging studies with specific radiopharmaceuticals (¹²³I-MIBG or ¹⁸F-FDOPA) for exclusion of multifocality/metastases, 36

SUBMITTER: Maignan A 

PROVIDER: S-EPMC7440815 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature