BCR-ABL阳性贝宁患者慢性髓性白血病JAK2 V617F突变

Simon Azonbakin, B. Houssou, I. Azannai, B. Awèdé, R. Massi, M. Adjagba, A. Agbalinsou, L. Anani, R. Darboux, F. Gangbo, A. Laleye
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引用次数: 0

摘要

慢性骨髓性白血病(CML)是一种获得性骨髓增生性疾病(MPD),其特征是染色体异常(费城染色体)导致嵌合BCR-ABL癌基因。JAK2酪氨酸激酶基因外显子12的获得性基因突变导致缬氨酸取代苯丙氨酸(V617F),这被描述为费城(Ph)染色体检测阴性的人最常见的CML形式。根据世界卫生组织(WHO)分类(2008),JAK2 V617F突变原研究文章Azonbakin等;中国生物医学杂志,8(1):1-6,2018;文章no.IBRR。394362和BCR-ABL易位在Ph(-)和Ph(+) MP中分别是互斥的。我们研究了27名贝宁患者Ph+髓性白血病中JAK2 V617F突变。使用ARMS多重PCR技术鉴定所有患者的JAK2 V617F突变。多数患者诊断为慢性期(88.9%),均为费城染色体携带者,认为Ph值为+。没有BCR/ABL易位患者携带JAK2 V617F突变。JAK2 V617F特异于Philadelphia基因阴性MP。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The JAK2 V617F Mutation in Chronic Myeloid Leukaemia within a BCR-ABL Positive Cohort of Beninese Patients
Chronic myelogenous leukaemia (CML) is an acquired myeloproliferative disorder (MPD) characterized by a chromosomal abnormality (the Philadelphia chromosome) that causes the chimeric BCR-ABL oncogene. An acquired genetic mutation in exon 12 of the JAK2 tyrosine kinase gene leading to a substitution of a valine for a phenylalanine (V617F) has been described as the most common form of CML for those who test negative for the Philadelphia (Ph) chromosome. According to World Health Organization (WHO) classifications (2008), the JAK2 V617F mutation Original Research Article Azonbakin et al.; IBRR, 8(1): 1-6, 2018; Article no.IBRR.39436 2 and the BCR-ABL translocation are mutually exclusive for Ph(-) and Ph (+) MP, respectively. We studied the JAK2 V617F mutation in Ph+ myeloid leukaemia in a cohort of 27 Beninese patients. The ARMS multiplex PCR technique was used to identify the JAK2 V617F mutation in all patients. Most of the patients were diagnosed as in the chronic phase (88.9%) of the disease, and all of them were carriers of the Philadelphia chromosome and considered Ph (+). No patients with the BCR/ABL translocation carried the JAK2 V617F mutation. JAK2 V617F is specific to Philadelphia gene negative MP.
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