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Analysis of the exon 12 and 14 mutations of the JAK2 gene in Philadelphia chromosome-positive leukemia

Leukemia volume 22, page 216 (2008)Cite this article

Previous studies have shown no correlation between transition of disease status for Philadelphia chromosome-positive (Ph+) chronic myelogenous leukemia (CML) and JAK2V617F gene mutation.1, 2 Recently, several novel mutations as well as deletion in exon 12 of the JAK2 gene in JAK2V617F-negative polycythemia vera3 and JAK2K607N mutation in acute myeloid leukemia4 were reported. Because the JAK–STAT pathway plays an important role in the initiation and progression of Ph+ leukemia,5, 6 we analyzed these novel mutations and deletion of the JAK2 gene among Ph+ CML patients and Ph+ acute leukemia (Ph+ AL). We examined 88 CML patients, three patients with Ph+ acute lymphocytic leukemia and two patients of Ph+ acute biphenotypic leukemia patients. Bone marrow mononuclear cells were obtained from all patients with a written informed consent.

Among the Ph+ CML cases, 72 patients were in the chronic phase, five patients were in the accelerate phase and 11 were in blast crisis (BC). Five Ph+ CML patients had additional chromosome aberrations and three Ph+ CML patients had double Ph+ chromosomes. As for Ph+ CML treatment, 13 had been treated with interferon-α before administration of imatinib and six patients were imatinib resistant.

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Authors and Affiliations

  1. Division of Hematology, Department of Internal Medicine, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-Ku, Tokyo, Japan

    M Inami, H Yamaguchi, Y Mitamura, F Kosaka, K Dan & K Inokuchi

  2. Sekino Clinical Pharmacology Clinic, 3-28-3 Ikebukuro, Toshima-ku, Tokyo, Japan

    S Hasegawa, A Kobayashi & S Kimura

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  1. M Inami
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  2. H Yamaguchi
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  8. K Dan
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  9. K Inokuchi
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Correspondence to M Inami.

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Inami, M., Yamaguchi, H., Hasegawa, S. et al. Analysis of the exon 12 and 14 mutations of the JAK2 gene in Philadelphia chromosome-positive leukemia. Leukemia 22, 216 (2008). https://doi.org/10.1038/sj.leu.2404953

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