title: Chronic myeloid leukemia patient with co-occurrence of BCR-ABL junction and JAK2 V617F mutation.
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.
authors.affiliation: Department of Clinical Laboratory, The First Affiliated Hospital, School of Medicine, Zhejiang University, 79 Qingchun Road, Hangzhou, 310003, China, xz1717@aliyun.com.
authors.forename: Weiyi
authors.initials: W
authors.lastname: Xu
authors.forename: Baode
authors.initials: B
authors.lastname: Chen
authors.forename: Xiangmin
authors.initials: X
authors.lastname: Tong
mesh_terms: D002871:Chromosome Banding; D004252:DNA Mutational Analysis; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D053614:Janus Kinase 2 / Q000235:genetics*; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D016044:Fusion Proteins, bcr-abl; D053614:Janus Kinase 2