title: The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes.
abstract: A somatic mutation in the JH2 autoinhibitory domain of the Janus kinase 2 (JAK2) tyrosine kinase was recently described in polycythemia vera, essential thrombocythemia, and myelofibrosis with myeloid metaplasia. The prevalence of this mutation in either "atypical" myeloproliferative disorders (MPDs) or the myelodysplastic syndromes (MDSs) is unknown. Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)--was screened for the JAK2 V617F mutation. A mutant allele was detected in 11 patients: 3 with CMML (3%), 5 with MDS (5%), 2 with SM, and 1 with CNL. Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. The current observation strengthens the specific association between JAK2 V617F and classic MPD, but also suggests an infrequent occurrence in other myeloid disorders.
authors.affiliation: Mayo Clinic and Mayo Clinic College of Medicine, Rochester MN 55905, USA.
authors.forename: David P
authors.initials: DP
authors.lastname: Steensma
authors.forename: Gordon W
authors.initials: GW
authors.lastname: Dewald
authors.forename: Terra L
authors.initials: TL
authors.lastname: Lasho
authors.forename: Heather L
authors.initials: HL
authors.lastname: Powell
authors.forename: Rebecca F
authors.initials: RF
authors.lastname: McClure
authors.forename: Ross L
authors.initials: RL
authors.lastname: Levine
authors.forename: D Gary
authors.initials: DG
authors.lastname: Gilliland
authors.forename: Ayalew
authors.initials: A
authors.lastname: Tefferi
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001853:Bone Marrow; D005260:Female; D005820:Genetic Testing; D006801:Humans; D053614:Janus Kinase 2; D008297:Male; D008875:Middle Aged; D017720:Molecular Epidemiology; D020125:Mutation, Missense; D009190:Myelodysplastic Syndromes / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D009196:Myeloproliferative Disorders / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D015995:Prevalence; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: D011518:Proto-Oncogene Proteins; D011505:Protein-Tyrosine Kinases; C507924:JAK2 protein, human; D053614:Janus Kinase 2