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Germline and somatic JAK2 mutations and susceptibility to chronic myeloproliferative neoplasms

Lynn R Goldin1*, Magnus Björkholm42, Sigurdur Y Kristinsson2, Jan Samuelsson43 and Ola Landgren5

Author Affiliations

1 Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892-7236, USA

2 Department of Medicine, Division of Hematology, Karolinska University Hospital Solna and Karolinska Institutet, Stockholm, Sweden

3 Department of Clinical Science and Education, Karolinska Institutet and Department of Internal Medicine, Stockholm South Hospital, Stockholm, Sweden

4 Swedish Myeloproliferative Disorder Study Group, Stockholm, Sweden

5 Medical Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA


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Genome Medicine 2009, 1:55 doi:10.1186/gm55

Published: 29 May 2009

Abstract

Myeloproliferative neoplasms (MPNs) are a group of closely related stem-cell-derived clonal proliferative diseases. Most cases are sporadic but first-degree relatives of MPN patients have a five- to seven-fold increased risk for developing an MPN. The tumors of most patients carry a mutation in the Janus kinase 2 gene (JAK2V617F). Recently, three groups have described a strong association of JAK2 germline polymorphisms with MPN in patients positive for JAK2V617F. The somatic mutation occurs primarily on one particular germline JAK2 haplotype, which may account for as much as 50% of the risk to first-degree relatives. This finding provides new directions for unraveling the pathogenesis of MPN.