title: Calculating the optimal surveillance for head and neck paraganglioma in SDHB-mutation carriers.
abstract: Germline mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to head-and-neck-paraganglioma (HNPGL), sympathetic PGL, pheochromocytoma and renal cell carcinoma for which regular surveillance is required. SDHB-associated tumors harbor germline and somatic mutations, consistent with Knudson's two-hit hypothesis. To assess the penetrance and optimal surveillance for different manifestations of SDHB mutation carriers. This study included all SDHB mutation carriers who were followed at the Department of Endocrinology at the University Medical Center of Groningen. Kaplan-Meier curves were used to assess the penetrance. Poisson process was used to assess the optimal age to start surveillance and intervals. Ninety-one SDHB-mutation carriers (38 men and 53 women) were included. Twenty-seven mutation carriers (30 %) had manifestations, with an overall penetrance 35 % at the age of 60 years. We calculated that optimal surveillance for HNPGL could start from an age of 27 years with an interval of 3.2 years. This study underscores the relatively low penetrance of disease in SDHB mutation carriers. Use of the Poisson approach provides a more accurate estimation of the age to initiate surveillance and length of intervals for HNPGL. These results may give rise to reconsider the current guidelines regarding the screening of these mutation carriers.
authors: Department of Endocrinology and Metabolic Diseases, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB, Groningen, The Netherlands.
authors: Karin
authors: K
authors: Eijkelenkamp
authors: Department of Endocrinology and Metabolic Diseases, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB, Groningen, The Netherlands.
authors: Thamara E
authors: TE
authors: Osinga
authors: Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors: Mirjam M
authors: MM
authors: de Jong
authors: Department of Endocrinology and Metabolic Diseases, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB, Groningen, The Netherlands.
authors: Wim J
authors: WJ
authors: Sluiter
authors: Department of Endocrinology and Metabolic Diseases, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB, Groningen, The Netherlands.
authors: Robin P F
authors: RP
authors: Dullaart
authors: Department of Endocrinology and Metabolic Diseases, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB, Groningen, The Netherlands.
authors: Thera P
authors: TP
authors: Links
authors: Department of Endocrinology and Metabolic Diseases, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB, Groningen, The Netherlands.
authors: Michiel N
authors: MN
authors: Kerstens
authors: Department of Endocrinology and Metabolic Diseases, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9700 RB, Groningen, The Netherlands. a.n.a.van.der.horst@umcg.nl.
authors: Anouk N A
authors: AN
authors: van der Horst-Schrivers
mesh_terms: D000328:Adult; D005260:Female; D006258:Head and Neck Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D008676:Metanephrine / Q000097:blood / Q000652:urine; D008875:Middle Aged; D010235:Paraganglioma / Q000000981:diagnostic imaging* / Q000235:genetics; D010673:Pheochromocytoma / Q000000981:diagnostic imaging / Q000235:genetics; D013385:Succinate Dehydrogenase / Q000235:genetics*
chemical_list: D008676:Metanephrine; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase
keywords: Paraganglioma; Pheochromocytoma; SDHB mutation carriers; Surveillance