SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Sophie T WilliamsProdromos ChatzikyriakouPaul V CarrollBarbara M McGowanAnand VelusamyGemma WhiteRupert ObholzerScott Alexander AkkerNicola TuftonRuth T CaseyEamonn R MaherSoo-Mi ParkMary PorteousRebecca DyerTricia TanFlorian WernigAngela F BradyMonika Kosicka-SlawinskaBenjamin C WhitelawHuw DorkinsFiona LallooPaul BrennanJoseph CarlowRichard MartinAnna L MitchellRachel HarrisonLara HawkesJohn Newell-PriceAlan KelsallRebecca IgbokweJulian AdlardSchaida SchirwaniRosemarie DavidsonPatrick J MorrisonTeng-Teng ChungChristopher BowlesLouise IzattPublished in: Clinical endocrinology (2021)
This study describes the largest cohort of 91 SDHC patients worldwide. We confirm disease-affected SDHC variant cases develop isolated HNPGL disease in nearly 2/3 of patients, EAPGL and PCC in 1/3, with an increased risk of GIST and RCC. One fifth developed malignant disease, requiring comprehensive lifelong tumour screening and surveillance.