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

European Journal of Human Genetics : EJHG
Berdine L HeestermanJeroen C Jansen

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 cranial nerve impairment was observed in 11% of subjects. The estimated fraction of subjects that developed new HNPGL increased to 73% (95% CI: 52-85%) after 22 years of follow-up. Males were more likely to develop new HNPGL compared to females (HR: 1.63, 95% CI: 1.10-2.40), as were subjects that presented with symptoms, compared to subjects that were asymptomatic at baseline (HR: 1.61, 95% CI: 1.01-2.55). In addition, the risk of new lesions dec...Continue Reading

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Sep 8, 2019·Journal of Medical Genetics·Jean Pierre BayleyHartmut P H Neumann
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May 23, 2021·Nature Reviews. Endocrinology·Laurence AmarCharlotte Lussey-Lepoutre

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Methods Mentioned

BETA
imaging techniques

Software Mentioned

R
SPSS Statistics

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