Chronic myeloid leukemia patient with co-occurrence of BCR-ABL junction and JAK2 V617F mutation

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• 作者：Weiyi Xu (1)
  Baode Chen (1)
  Xiangmin Tong (2)
  
• 关键词：Chronic myeloid leukemia ; BCR ; ABL ; JAK2 V617F mutation
• 刊名：International Journal of Hematology
• 出版年：2014
• 出版时间：January 2014
• 年：2014
• 卷：99
• 期：1
• 页码：87-90
• 全文大小：191 KB
• 作者单位：Weiyi Xu (1)
  Baode Chen (1)
  Xiangmin Tong (2)
  
  1. Department of Clinical Laboratory, The First Affiliated Hospital, School of Medicine, Zhejiang University, 79 Qingchun Road, Hangzhou, 310003, China
  2. Department of Hematology, The First Affiliated Hospital, School of Medicine, Zhejiang University, 79 Qingchun Road, Hangzhou, 310003, China
  
• ISSN：1865-3774

文摘

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.