A novel germline (c.314T>A) SDHB variant in metastatic paraganglioma: case report and literature review

A novel germline (c.314T>A) SDHB variant in metastatic paraganglioma: case report and literature review

Introductionmost sympathetic paragangliomas are driven by germline pathogenic variants. Identifying germline succinate dehydrogenase B (SDHB) pathogenic variant has important management implications. Here we report a novel germline variant in the SDHB gene in a patient with metastatic paraganglioma...

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Bibliographic Details
Main Authors: Stella Bernardi, Stefania Zovato, Gianmaria Pennelli, Marco Cavallaro, Matteo Rovina, Chiara Dobrinja, Alessandra Guglielmi, Fabrizio Zanconati, Daniela Mazzà, Alberto Nieri, Mirco Bartolomei, Francesca Schiavi
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Endocrinology
Subjects:
metastatic paraganglioma
SDHB
PPGL
Averbuch chemotherapy
PRRT
tyrosine kinase inhibitors
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1577421/full
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