Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms

Genes Chromosomes Cancer. 2012 Aug;51(8):743-55. doi: 10.1002/gcc.21960. Epub 2012 Apr 9.

Abstract

Since the discovery of the JAK2V617F tyrosine kinase-activating mutation several genes have been found mutated in nonchronic myeloid leukemia (CML) myeloproliferative neoplasms (MPNs), which mainly comprise three subtypes of "classic" MPNs; polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF). We searched for mutations in ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 genes in 149 non-CML MPNs, including 127 "classic" MPNs cases. JAK2 was mutated in 100% PV, 66% ET and 68% MF. We found a high incidence of ASXL1 mutation in MF patients (20%) and a low incidence in PV (7%) and ET (4%) patients. Mutations in the other genes were rare (CBL, DNMT3A, IDH2, MPL, SF3B1, SUZ12, NF1) or absent (IDH1).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Carrier Proteins / genetics
  • DNA (Cytosine-5-)-Methyltransferases / genetics
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Isocitrate Dehydrogenase / genetics
  • Janus Kinase 2 / genetics*
  • Kaplan-Meier Estimate
  • Male
  • Middle Aged
  • Myeloproliferative Disorders / genetics*
  • Neurofibromin 1 / genetics
  • Nuclear Proteins / genetics
  • Phosphoproteins / genetics
  • Polycomb Repressive Complex 2
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins c-cbl / genetics
  • RNA Splicing Factors
  • Receptors, Thrombopoietin / genetics
  • Repressor Proteins / genetics*
  • Ribonucleoprotein, U2 Small Nuclear / genetics

Substances

  • ASXL1 protein, human
  • Carrier Proteins
  • DNA-Binding Proteins
  • Neurofibromin 1
  • Nuclear Proteins
  • Phosphoproteins
  • Proto-Oncogene Proteins
  • RNA Splicing Factors
  • Receptors, Thrombopoietin
  • Repressor Proteins
  • Ribonucleoprotein, U2 Small Nuclear
  • SF3B1 protein, human
  • SUZ12 protein, human
  • TET2 protein, human
  • MPL protein, human
  • Isocitrate Dehydrogenase
  • isocitrate dehydrogenase 2, human
  • IDH1 protein, human
  • DNA (Cytosine-5-)-Methyltransferases
  • DNA methyltransferase 3A
  • Polycomb Repressive Complex 2
  • Proto-Oncogene Proteins c-cbl
  • JAK2 protein, human
  • Janus Kinase 2