Contribution of Molecular Biology in the Diagnosis and Follow-Up of Chronic Myeloid Leukemia

H. Bennani, A. E. Ouarradi, H. Lazrek, H. Yahyaoui, M. Chakour
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Abstract

Background: The advent of tyrosine kinase inhibitors and the evolution of molecular biology techniques have revolutionized the management and outcome of patients with chronic myeloid leukemia, it is currently considered a model of carcinogenesis and successful targeted therapy. Methods: Our study was retrospective, descriptive and observational, carried out within the hematology laboratory of the Avicenna Military Hospital in Marrakech, spread over a period of 6 years and included a total of 10 patients from the department of clinical hematology. The aim of our study was to highlight the impact of molecular biology, in particular the GeneXpert technique, on the diagnosis and monitoring of Chronic myeloid leukemia (CML), and to discuss afterwards the different techniques as well as their contribution. Results: Regarding the diagnostic data; all of our patients underwent a complete blood count, myelogram, and bone marrow karyotype. The complete blood count (CBC) showed leukocytosis in 100% of cases, thrombocytosis and anemia in 80% of cases. The myelogram showed a medullary blastosis with a rate <10% in 90% of the cases, thus classifying them in the chronic phase. At karyotype, all patients had the translocation (9; 22). Concerning molecular biology, quantification of the BCR-ABL transcript by GeneXpert was performed in 60% of patients, only 20% of cases benefited from both the quantitative study by GeneXpert and the qualitative study by multiplex PCR. During treatment, 80% of our patients were put on hydroxyurea pending confirmation of the diagnosis. Later on, all of our patients were treated with first-line imatinib, of which 3 (30%) had treatment failure requiring to be put on second-linenilotinib. Of these, 2 were treated with third-line dasatinib. GeneXpert was used for follow-up, a major molecular response (MMR) was achieved in 70% of the cases with an average delay of 9 months. The profiling of patients who obtained an MMR showed a male predominance ...........
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分子生物学在慢性髓性白血病诊断和随访中的贡献
背景:酪氨酸激酶抑制剂的出现和分子生物学技术的发展已经彻底改变了慢性髓性白血病患者的治疗和预后,它目前被认为是一种致癌和成功靶向治疗的模式。方法:我们的研究采用回顾性、描述性和观察性的方法,在马拉喀什阿维森纳军事医院血液学实验室进行,为期6年,包括来自临床血液学部门的10名患者。我们研究的目的是强调分子生物学的影响,特别是GeneXpert技术,对慢性髓性白血病(CML)的诊断和监测,并讨论不同的技术及其贡献。结果:关于诊断资料;我们所有的病人都进行了全血细胞计数、骨髓显影和骨髓核型检查。全血细胞计数(CBC)显示100%的病例有白细胞增多,80%的病例有血小板增多和贫血。骨髓造影显示髓质囊胚形成,90%的病例发生率<10%,因此归类为慢性期。在核型上,所有患者均有易位(9;22)。在分子生物学方面,60%的患者使用GeneXpert对BCR-ABL转录物进行了定量分析,只有20%的病例同时受益于GeneXpert的定量研究和多重PCR的定性研究。在治疗过程中,我们80%的患者在确诊之前使用羟基脲。随后,我们所有的患者都接受了一线伊马替尼治疗,其中3例(30%)治疗失败,需要使用二线伊马替尼。其中2例接受三线达沙替尼治疗。GeneXpert用于随访,70%的病例实现了主要分子缓解(MMR),平均延迟9个月。获得MMR的患者的分析显示男性占优势...........
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