Can subunit-specific phenotypes guide surveillance imaging decisions in asymptomatic SDH mutation carriers?

摘要: Objective With the discovery that familial phaeochromocytoma and paraganglioma syndrome can be caused by mutations in each subunit of succinate dehydrogenase enzyme (SDH), has come recognition individual subunits have their own distinct natural histories. Increased genetic screening is leading to identification increasing numbers of, mostly asymptomatic, gene mutation carriers implementation strategies for these individuals. Yet there is, date, no international consensus regarding asymptomatic carriers. Design A comprehensive PubMed search from 1/1/2000 28/2/2018 was undertaken using multiple terms subsequently a manual review references identified papers identify all clinically relevant cases cohorts. In this review, accumulated, published experience phenotype malignancy risks SDH analysed. Where possible results been analysed separately define penetrance (asymptomatic penetrance). Results The combined data confirms "asymptomatic penetrance" highest SDHD when penetrance, most likely site develop PGL head neck (SDHD) extra-adrenal abdominal (SDHB). However, risk SDHB developing HNPGL also high (35.5%) PCC low (15.1%), (35.8%) or (9.4%) small, but significant at other sympathetic sites. suggest malignant transformation same both PGLs (30%-35%) carriers, HNPGLs (7.5%) similar sites (3.8%-5.2%). Conclusions Using data, we surveillance tailored underlying programmes.