Erschienen in:
01.01.2014 | Case Report
Chronic myeloid leukemia patient with co-occurrence of BCR-ABL junction and JAK2 V617F mutation
verfasst von:
Weiyi Xu, Baode Chen, Xiangmin Tong
Erschienen in:
International Journal of Hematology
|
Ausgabe 1/2014
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Abstract
The JAK2 V617F mutation is common in patients with Philadelphia-negative chronic myeloproliferative neoplasms, but few cases of the JAK2 V617F mutation have been described in Philadelphia-positive chronic myeloid leukemia (CML) patients. Here, we report a 21-year-old female who presented with phenotype of CML in whom BCR-ABL transcript and JAK2V617F mutation co-occurred. These findings were determined through cytogenetic analysis, fluorescence in situ hybridization, and allele-specific (AS) PCR. The patient’s BCR-ABL transcript disappeared after 6 months of treatment with imatinib, while the JAK2V617F mutation remained positive. We discuss this case with reference to the current literature.