Article
Paraganglioma and other tumour detection rates in individuals with SDHx pathogenic variants by age of diagnosis and after the age of 50.
Clinical endocrinology - 1 Sept 2021
Greenberg Samantha E, Holman Rachel, Kohlmann Wendy, Buchmann Luke, Naumer Anne
Abstract excerpt
OBJECTIVE: Patients with SDHx germline mutations (SDHA, AF2, B, C, D) are at risk for paragangliomas (PGLs), renal cell carcinoma and gastrointestinal stromal tumours. The aim of this study was to evaluate the age of SDHx tumour diagnosis in those with pathogenic variants (PVs), notably tumour detection after the age of 50 years. STUDY DESIGN: Longitudinal retrospective observational analysis. PATIENTS:...
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