The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both “atypical” myeloproliferative disorders and myelodysplastic syndromes

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)...

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Bibliographic Details
Published in:Blood 2005-08, Vol.106 (4), p.1207-1209
Main Authors: Steensma, David P., Dewald, Gordon W., Lasho, Terra L., Powell, Heather L., McClure, Rebecca F., Levine, Ross L., Gilliland, D. Gary, Tefferi, Ayalew
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Biological and medical sciences
Bone Marrow
Clinical Observations, Interventions, and Therapeutic Trials
Female
Genetic Testing
Hematologic and hematopoietic diseases
Humans
Janus Kinase 2
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Male
Medical sciences
Middle Aged
Molecular Epidemiology
Mutation, Missense
Myelodysplastic Syndromes - enzymology
Myelodysplastic Syndromes - epidemiology
Myelodysplastic Syndromes - genetics
Myeloproliferative Disorders - enzymology
Myeloproliferative Disorders - epidemiology
Myeloproliferative Disorders - genetics
Prevalence
Protein-Tyrosine Kinases - genetics
Proto-Oncogene Proteins - genetics
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Summary: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.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood-2005-03-1183