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JAK2V617F as progression marker in CMPD and as cooperative mutation in AML with trisomy 8 and t(8;21): a comparative study on 1103 CMPD and 269 AML cases

Leukemia volume 21, pages 1843–1845 (2007)Cite this article

Owing to the high incidence of the V617F point mutation in the JAK2 gene on 9p24 in the BCR-ABL-negative chronic myeloproliferative diseases (CMPD), molecular screening for the respective mutation achieved a key role for patients with polycythemia vera (PV), essential thrombocytosis (ET), chronic idiopathic myelofibrosis (CIMF) and in cases with the suspicion of a CMPD.1, 2, 3 The mutation was further detected in some cases of chronic myelomonocytic leukemia (CMML),1, 3, 4 and was reported in acute myeloid leukemia (AML) in lower frequencies, but the number of analyzed cases so far is limited.1, 3, 5, 6, 7 In addition, the association of JAK2V617F to certain cytogenetic aberrations remains to be clarified.

To further improve understanding of the cooperating role of JAK2V617F with other genetic markers, we screened 1372 patients with various CMPD and AML by a melting curve-based assay and correlated the results to cytogenetic data. The cohort was composed of 681 males and 691 females with a median age of 63.2 years (range=16.4–90.1). Within the total cohort, 1103 patients had a diagnosis of CMPD (PV: n=179 patients; CIMF: n=60; ET: n=205) and 632 cases had chronic myeloproliferative disorders, which could not be clearly classified (CMPD-U). In addition, 27 patients with the myeloproliferative form of CMML and 269 patients with AML were included (de novo AML: n=178; secondary acute myeloid leukemia (s-AML) after CMPD: n=27; s-AML after myelodysplastic syndrome (MDS): n=25; therapy-related AML (t-AML) after treatment of a previous malignancy: n=39) (median age=63.4 years, range=18.3–89.8). The group with de novo AML was not unselected, but selected to have a balanced cohort with all cytogenetic subgroups represented (normal: n=34; complex aberrant: n=32, t(8;21): n=20, inv(16): n=21, t(15;17): n=20, t(11q23): n=5, +8: n=46). Diagnoses were based on the WHO classification according to bone marrow and peripheral blood cytomorphology, histology and clinical criteria.

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  1. MLL Munich Leukemia Laboratory, Munich, Germany

    S Schnittger, W Kern, T Haferlach & C Haferlach

  2. Bone Marrow Transplant Unit, University Hospital of Hamburg-Eppendorf, Hamburg, Germany

    U Bacher

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Correspondence to S Schnittger.

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Schnittger, S., Bacher, U., Kern, W. et al. JAK2V617F as progression marker in CMPD and as cooperative mutation in AML with trisomy 8 and t(8;21): a comparative study on 1103 CMPD and 269 AML cases. Leukemia 21, 1843–1845 (2007). https://doi.org/10.1038/sj.leu.2404707

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