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Familial Cancer
Published in: Familial Cancer 1/2017

Open Access 01-01-2017 | Original Article

Calculating the optimal surveillance for head and neck paraganglioma in SDHB-mutation carriers

Authors: Karin Eijkelenkamp, Thamara E. Osinga, Mirjam M. de Jong, Wim J. Sluiter, Robin P. F. Dullaart, Thera P. Links, Michiel N. Kerstens, Anouk N. A. van der Horst-Schrivers

Published in: Familial Cancer | Issue 1/2017

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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.
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Metadata
Title
Calculating the optimal surveillance for head and neck paraganglioma in SDHB-mutation carriers
Authors
Karin Eijkelenkamp
Thamara E. Osinga
Mirjam M. de Jong
Wim J. Sluiter
Robin P. F. Dullaart
Thera P. Links
Michiel N. Kerstens
Anouk N. A. van der Horst-Schrivers
Publication date
01-01-2017
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 1/2017
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-016-9923-3

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