Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers.

ABSTRACT: Although it is well established that paternally transmitted germline variants in SDHD are associated with multifocal paragangliomas and lifelong follow-up is generally advised, the risk of metachronous lesions is presently unknown. In a large Dutch cohort of SDHD variant carriers, we studied the development of new paragangliomas, and the evolution of symptoms and cranial nerve impairment. Recurrent event analysis and the Kaplan-Meier product limit estimator were used to study the risk of new lesions. The relation between several predictors and development of new symptoms was assessed using logistic regression. Of the 222 SDHD variant carriers included, 65% presented with symptoms and 11% with cranial nerve dysfunction. Over a median period of 8 years, 42% reported new symptoms, and new cra

SUBMITTER: Heesterman BL 

PROVIDER: S-EPMC6117364 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature