Role of TET2 and ASXL1 Mutations in the Pathogenesis of Myeloproliferative Neoplasms Review uri icon

Overview

MeSH Major

  • DNA-Binding Proteins
  • Mutation
  • Myeloproliferative Disorders
  • Proto-Oncogene Proteins
  • Repressor Proteins

abstract

  • Since the discovery of activating mutations in JAK2 in patients with myeloproliferative neoplasms (MPNs) in 2005, gene discovery efforts have identified additional disease alleles, which can predate or occur subsequent to acquisition of JAK2/MPL mutations. In 2009, somatic copy number loss and mutations in the genes TET2 and ASXL1 were identified in MPN patients. Genetic analysis of MPN patient cohorts with adequate sample size and clear clinical annotation are needed to understand the importance of these mutations on MPN phenotype, risk of transformation to leukemia, response to therapy, and influence on overall survival.

publication date

  • October 2012

Research

keywords

  • Review

Identity

Language

  • eng

PubMed Central ID

  • PMC3459179

Digital Object Identifier (DOI)

  • 10.1016/j.hoc.2012.07.006

PubMed ID

  • 23009937

Additional Document Info

start page

  • 1053

end page

  • 64

volume

  • 26

number

  • 5