作者
Jyoti Nangalia, Jing Guo, Klaudia Walter, Pedro Quiros, Muxin Gu, E Joanna Baxter, John Danesh, Emanuele Di Angelantonio, David Roberts, Paola Guglielmelli, Claire N Harrison, Anna L Godfrey, Anthony R Green, George Vassiliou, Dragana Vuckovic, Nicole Soranzo
发表日期
2023/11/28
期刊
Blood
卷号
142
页码范围
863
出版商
Content Repository Only!
简介
Polygenic germline loci are a major contributor to population variation in common blood cell traits, but little is known about how such predisposition influences clonal selection and cancer. Myeloproliferative neoplasms (MPN) are rare chronic haematological cancers characterised by the abnormal overproduction of mature blood cells leading to elevated blood cells parameters, and are driven by somatic mutations, e.g. JAK2 V617F. JAK2 mutations result in a spectrum of phenotypes from asymptomatic clonal haematopoiesis (CH) to distinct MPN subtypes characterised by increased red blood cells (polycythaemia vera; PV) and platelets (essential thrombocythaemia; ET) respectively. Compared to MPN, mutant JAK2 is much more common in the population, the vast majority of whom do not meet, or go on to develop, disease defining characteristics of MPN. Little is understood about why only a minority of individuals …