A novel succinate dehydrogenase subunit B germline variant associated with head and neck paraganglioma in a Dutch kindred:A family-based study

Objective: In the Netherlands, the majority of hereditary head and neck paragangliomas (HNPGL) are caused by germline variants in the succinate dehydrogenase genes (SDHD, SDHB, SDHAF2). Here, we evaluate a four-generation family linked to a novel SDHB gene variant with the manifestation of a HNPGL. Design: A family-based study. Setting: The VU University Medical Center (VUmc) Amsterdam, a tertiary clinic for Otolaryngology and Head and Neck Surgery. Participants and main outcome measures: The index patients presented with an embryonic rhabdomyosarcoma and a non-Hodgkin lymphoma. Array-based co... Mehr ...