Genetics of the myeloproliferative neoplasms

O Abdel-Wahab, RL Levine - Myeloproliferative Neoplasms: Biology and …, 2011 - Springer
O Abdel-Wahab, RL Levine
Myeloproliferative Neoplasms: Biology and Therapy, 2011Springer
The myeloproliferative neoplasms (MPNs) are clonal disorders of hematopoiesis
characterized by the production of mature appearing cells within the blood stream. The
MPNs were initially grouped together by William Dameshek in 1951, who noted the
pathogenetic and clinical similarity of the different MPN [1]. However, it was not until the last
5 years that researchers have begun to elucidate the genetic basis for this group of
diseases. Beginning with the 2005 discovery of the JAK2-V617F mutation, different MPNs …
Abstract
The myeloproliferative neoplasms (MPNs) are clonal disorders of hematopoiesis characterized by the production of mature appearing cells within the blood stream. The MPNs were initially grouped together by William Dameshek in 1951, who noted the pathogenetic and clinical similarity of the different MPN [1]. However, it was not until the last 5 years that researchers have begun to elucidate the genetic basis for this group of diseases. Beginning with the 2005 discovery of the JAK2-V617F mutation, different MPNs have been the source of multiple gene discovery efforts [2–5]. This has led to the exciting discovery of a series of mutations in patients with MPN in known genes as well as in novel genes not previously known to be involved in pathogenesis of human disease.
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