title: Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms.
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).
authors.affiliation: Laboratoire d'Oncologie Moléculaire, Centre de Recherche en Cancérologie de Marseille, UMR1068 Inserm, Institut Paoli-Calmettes, Marseille, France.
authors.forename: Mandy
authors.initials: M
authors.lastname: Brecqueville
authors.forename: Jérôme
authors.initials: J
authors.lastname: Rey
authors.forename: François
authors.initials: F
authors.lastname: Bertucci
authors.forename: Emilie
authors.initials: E
authors.lastname: Coppin
authors.forename: Pascal
authors.initials: P
authors.lastname: Finetti
authors.forename: Nadine
authors.initials: N
authors.lastname: Carbuccia
authors.forename: Nathalie
authors.initials: N
authors.lastname: Cervera
authors.forename: Véronique
authors.initials: V
authors.lastname: Gelsi-Boyer
authors.forename: Christine
authors.initials: C
authors.lastname: Arnoulet
authors.forename: Olivier
authors.initials: O
authors.lastname: Gisserot
authors.forename: Denis
authors.initials: D
authors.lastname: Verrot
authors.forename: Borhane
authors.initials: B
authors.lastname: Slama
authors.forename: Norbert
authors.initials: N
authors.lastname: Vey
authors.forename: Marie-Joelle
authors.initials: MJ
authors.lastname: Mozziconacci
authors.forename: Daniel
authors.initials: D
authors.lastname: Birnbaum
authors.forename: Anne
authors.initials: A
authors.lastname: Murati
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002352:Carrier Proteins / Q000235:genetics; D004248:DNA (Cytosine-5-)-Methyltransferases / Q000235:genetics; D000090205:DNA Methyltransferase 3A; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D049308:Dioxygenases; D005260:Female; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics; D053614:Janus Kinase 2 / Q000235:genetics*; D053208:Kaplan-Meier Estimate; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000235:genetics*; D009363:Neoplasm Proteins; D025542:Neurofibromin 1 / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010750:Phosphoproteins / Q000235:genetics; D063151:Polycomb Repressive Complex 2; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D050721:Proto-Oncogene Proteins c-cbl / Q000235:genetics; D000072260:RNA Splicing Factors; D053628:Receptors, Thrombopoietin / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics*; D017413:Ribonucleoprotein, U2 Small Nuclear / Q000235:genetics; D014157:Transcription Factors
chemical_list: C473949:ASXL1 protein, human; D002352:Carrier Proteins; D004268:DNA-Binding Proteins; C000717967:DNMT3A protein, human; D009363:Neoplasm Proteins; D025542:Neurofibromin 1; D009687:Nuclear Proteins; D010750:Phosphoproteins; D011518:Proto-Oncogene Proteins; D000072260:RNA Splicing Factors; D053628:Receptors, Thrombopoietin; D012097:Repressor Proteins; D017413:Ribonucleoprotein, U2 Small Nuclear; C112491:SF3B1 protein, human; C430461:SUZ12 protein, human; D014157:Transcription Factors; C082218:MPL protein, human; C538784:IDH2 protein, human; D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human; D049308:Dioxygenases; C541081:TET2 protein, human; D004248:DNA (Cytosine-5-)-Methyltransferases; D000090205:DNA Methyltransferase 3A; D063151:Polycomb Repressive Complex 2; D050721:Proto-Oncogene Proteins c-cbl; C507924:JAK2 protein, human; D053614:Janus Kinase 2