Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers
AbstractGermline mutations in succinate dehydrogenase subunit B and D (SDHB and SDHD) 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 SDHB variant carriers and that of a large cohort of SDHD variant carriers and compare it to the mortality of a matched cohort of the general Dutch population. A total of 192 SDHB variant carriers and 232 SDHD variant carriers were included in this study. The Standard Mortality Ratio (SMR) for SDHB mutation carriers was 1.89, increasing to 2.88 in carriers affected by PGL. For SDHD variant carriers the SMR was 0.93 and 1.06 in affected carriers. Compared to the general population, mortality seems to be increased in SDHB variant carriers, especially in those affected by PGL. In SDHD 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. View Full-Text
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Rijken, J.A.; van Hulsteijn, L.T.; Dekkers, O.M.; Niemeijer, N.D.; Leemans, C.R.; Eijkelenkamp, K.; van der Horst-Schrivers, A.N.; Kerstens, M.N.; van Berkel, A.; Timmers, H.J.; Kunst, H.P.; Bisschop, P.H.; Dreijerink, K.M.; van Dooren, M.F.; Hes, F.J.; Jansen, J.C.; Corssmit, E.P.; Hensen, E.F. Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers. Cancers 2019, 11, 103.
Rijken JA, van Hulsteijn LT, Dekkers OM, Niemeijer ND, Leemans CR, Eijkelenkamp K, van der Horst-Schrivers AN, Kerstens MN, van Berkel A, Timmers HJ, Kunst HP, Bisschop PH, Dreijerink KM, van Dooren MF, Hes FJ, Jansen JC, Corssmit EP, Hensen EF. Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers. Cancers. 2019; 11(1):103.Chicago/Turabian Style
Rijken, Johannes A.; van Hulsteijn, Leonie T.; Dekkers, Olaf M.; Niemeijer, Nicolasine D.; Leemans, C. R.; Eijkelenkamp, Karin; van der Horst-Schrivers, Anouk N.; Kerstens, Michiel N.; van Berkel, Anouk; Timmers, Henri J.; Kunst, Henricus P.; Bisschop, Peter H.; Dreijerink, Koen M.; van Dooren, Marieke F.; Hes, Frederik J.; Jansen, Jeroen C.; Corssmit, Eleonora P.; Hensen, Erik F. 2019. "Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers." Cancers 11, no. 1: 103.
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