Genetic and epigenetic complexity in myeloproliferative neoplasms

Cross, Nicholas C. P. (2011) Genetic and epigenetic complexity in myeloproliferative neoplasms Hematology, 2011, (1), pp. 208-214. (doi:10.1182/asheducation-2011.1.208). (PMID:22160036).


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The past 7 years have witnessed remarkable progress in our understanding of the genetics of BCR-ABL-negative myeloproliferative neoplasms (MPNs) and has revealed layers of unexpected complexity. Deregulation of JAK2 signaling has emerged as a central feature, but despite having biological activities that recapitulate the cardinal features MPNs in model systems, JAK2 mutations are often secondary events. Several other mutated genes have been identified with a common theme of involvement in the epigenetic control of gene expression. Remarkably, the somatic mutations identified to date do not seem to be acquired in any preferred order, and it is possible that the disease-initiating events remain to be identified. The finding of complex clonal hierarchies in many cases suggests genetic instability that, in principle, may be inherited or acquired. A common haplotype has been identified that is strongly associated with the acquisition of JAK2 mutations, but the cause of relatively high-penetrance familial predisposition to MPNs remains elusive. This review summarizes the established facts relating to the genetics of MPNs, but highlights recent findings and areas of controversy.

Item Type: Article
Digital Object Identifier (DOI): doi:10.1182/asheducation-2011.1.208
ISSNs: 1024-5332 (print)
Related URLs:

Organisations: Human Development & Health
ePrint ID: 207459
Date :
Date Event
10 December 2011Published
Date Deposited: 10 Jan 2012 12:30
Last Modified: 18 Apr 2017 00:37
Further Information:Google Scholar

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