Rijken Johannes A, van Hulsteijn Leonie T, Dekkers Olaf M, Niemeijer Nicolasine D, Leemans C René, Eijkelenkamp Karin, van der Horst-Schrivers Anouk N A, Kerstens Michiel N, van Berkel Anouk, Timmers Henri J L M, Kunst Henricus P M, Bisschop Peter H L T, Dreijerink Koen M A, van Dooren Marieke F, Hes Frederik J, Jansen Jeroen C, Corssmit Eleonora P M, Hensen Erik F
Department of Otolaryngology/Head and Neck Surgery, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1117, 1081 HZ Amsterdam, The Netherlands.
Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Cancers (Basel). 2019 Jan 17;11(1):103. doi: 10.3390/cancers11010103.
Germline mutations in succinate dehydrogenase subunit B and D ( and ) are predisposed to hereditary paraganglioma (PGL) and pheochromocytoma (PHEO). The phenotype of pathogenic variants varies according to the causative gene. In this retrospective study, we estimate the mortality of a nationwide cohort of variant carriers and that of a large cohort of variant carriers and compare it to the mortality of a matched cohort of the general Dutch population. A total of 192 variant carriers and 232 variant carriers were included in this study. The Standard Mortality Ratio (SMR) for mutation carriers was 1.89, increasing to 2.88 in carriers affected by PGL. For variant carriers the SMR was 0.93 and 1.06 in affected carriers. Compared to the general population, mortality seems to be increased in variant carriers, especially in those affected by PGL. In variant carriers, the mortality is comparable to that of the general Dutch population, even if they are affected by PGL. This insight emphasizes the significance of DNA-testing in all PGL and PHEO patients, since different clinical risks may warrant gene-specific management strategies.
琥珀酸脱氢酶亚基B和D（SDHB和SDHD）的种系突变易患遗传性副神经节瘤（PGL）和嗜铬细胞瘤（PHEO）。致病变异的表型因致病基因而异。在这项回顾性研究中，我们评估了全国范围内一组SDHB变异携带者和一大组SDHD变异携带者的死亡率，并将其与荷兰普通人群匹配队列的死亡率进行比较。本研究共纳入了192名SDHB变异携带者和232名SDHD变异携带者。SDHB突变携带者的标准化死亡率比（SMR）为1.89，在患有PGL的携带者中升至2.88。对于SDHD变异携带者，SMR为0.93，在受影响的携带者中为1.06。与普通人群相比，SDHB变异携带者的死亡率似乎有所增加, 尤其是那些患有PGL的携带者。在SDHD变异携带者中，即使他们患有PGL，其死亡率与荷兰普通人群相当。这一见解强调了对所有PGL和PHEO患者进行DNA检测的重要性，因为不同的临床风险可能需要特定基因的管理策略。
