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

This study included allSDHB 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-oneSDHB-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 inSDHB 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.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research