The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia
Open accessAbstract
Activating mutations in tyrosine kinases have been identified in hematopoietic and nonhematopoietic malignancies. Recently, we and others identified a single recurrent somatic activating mutation (JAK2V617F) in the Janus kinase 2 (JAK2) tyrosine kinase in the myeloproliferative disorders (MPDs) polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. We used direct sequence analysis to determine if the JAK2V617F mutation was present in acute myeloid leukemia (AML), chronic myelomonocytic leukemia (CMML)/atypical chronic myelogenous leukemia (aCML), myelodysplastic syndrome (MDS), B-lineage acute lymphoblastic leukemia (ALL), T-cell ALL, and chronic lymphocytic leukemia (CLL). Analysis of 222 patients with AML identified JAK2V617F mutations in 4 patients with AML, 3 of whom had a preceding MPD. JAK2V617F mutations were identified in 9 (7.8%) of 116 CMML/a CML samples, and in 2 (4.2%) of 48 MDS samples. We did not identify the JAK2V617F disease allele in B-lineage ALL (n = 83), T-cell ALL (n = 93), or CLL (n = 45). These data indicate that the JAK2V617F allele is present in acute and chronic myeloid malignancies but not in lymphoid malignancies.
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Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
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A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
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A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders
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Internal tandem duplication of the flt3 gene found in acute myeloid leukemia.
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Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders
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Cited by
Clinical and biological implications of driver mutations in myelodysplastic syndromes
Papaemmanuil, E., Gerstung, M., Malcovati, L., Tauro, S., Gundem, G., Van Loo, P., Yoon, C. J., Ellis, P., Wedge, D. C., Pellagatti, A., et al. (2013) · Blood · doi:10.1182/blood-2013-08-518886 · Cited by 1,832
The Myeloproliferative Disorders
Campbell, P. J., & Green, A. R. (2006) · New England Journal of Medicine · doi:10.1056/nejmra063728 · Cited by 915
Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies
Abdel-Wahab, O., Mullally, A., Hedvat, C., Garcia-Manero, G., Patel, J., Wadleigh, M., Malinge, S., Yao, J., Kilpivaara, O., Bhat, R., et al. (2009) · Blood · doi:10.1182/blood-2009-03-210039 · Cited by 727
Self-citationGenetic basis and molecular pathophysiology of classical myeloproliferative neoplasms
Vainchenker, W., & Kralovics, R. (2017) · Blood · doi:10.1182/blood-2016-10-695940 · Cited by 616
Cooperating gene mutations in acute myeloid leukemia: a review of the literature
Renneville, A., Roumier, C., Biggio, V, Nibourel, O., Boissel, N., Fenaux, P., & Preudhomme, C. (2008) · Leukemia · doi:10.1038/leu.2008.19 · Cited by 351
Metadata
- Authors
- Levine, R. L.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2005-11-15
- Volume
- 106
- Issue
- 10
- Pages
- 3377-3379
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2101502003
- Cited by
- 375
- References
- 22
- FWCI
- 18.50
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. https://app.cochat.ai/papers/10.1182/blood-2005-05-1898
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- Levine, R. L. (2005). The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood. https://doi.org/10.1182/blood-2005-05-1898
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