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Activating mutations of JAK2V617F are uncommon in t-MDS and t-AML and are only observed in atypic cases

Leukemia volume 20, pages 547–548 (2006)Cite this article

Activating mutations of genes in the receptor tyrosine kinase RAS-BRAF (RTK/RAS-BRAF) signal transduction pathway are common in myelodysplasia (MDS) and acute myeloid leukemia (AML)1, 2, 3, 4 and in the therapy-related subsets of these diseases (t-MDS/t-AML).5 Recently, a specific activating mutation of the JAK2 tyrosine kinase was detected in 154/201 cases of polycythemia vera (77%), in 21/44 cases of idiopatic myelofibrosis (48%) and in 50/144 cases of essential thrombocythemia (35%).6, 7 The JAK2V617F mutation was subsequently observed only sporadically in 3/119 cases of chronic myelomonocytic leukemia, including a case with a history of B cell lymphoma, and in 5/101 cases of MDS including four patients with a normal karyotype.8

In our systematic search for genetic abnormalities in t-MDS and t-AML and their association to clinical parameters and cytogenetic characteristics, we examined 140 unselected patients with t-MDS or t-AML previously examined for mutations in the RTK/RAS-BRAF pathway5 for the JAK2V617F mutation. PCR amplification and direct sequencing of JAK2 exon 12 was performed as previously reported5 using primers described elsewhere.8

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  1. F Desta and D H Christiansen: These authors contributed equally to this work

Authors and Affiliations

  1. Department of Clinical Genetics, The Cytogenetic Laboratory, Section 4052, Rigshospitalet, Copenhagen, 2100, DK, Denmark

    F Desta, D H Christiansen, M K Andersen & J Pedersen-Bjergaard

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  1. F Desta
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  2. D H Christiansen
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Correspondence to J Pedersen-Bjergaard.

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Desta, F., Christiansen, D., Andersen, M. et al. Activating mutations of JAK2V617F are uncommon in t-MDS and t-AML and are only observed in atypic cases. Leukemia 20, 547–548 (2006). https://doi.org/10.1038/sj.leu.2404072

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