[荧光原位杂交技术对马里慢性髓细胞白血病治疗反应的诊断与评估]
[Diagnosis and evaluation of the response to treatment of chronic myeloid leukaemia in Mali by fluorescent in situ hybridization].
作者信息
Sidibé C O, Samassékou O, Bathily M, Ly M, Diallo Y, Landouré G, Traoré S F, Guinto C O, Traoré M
机构信息
1Université des Sciences des Techniques et des Technologies de Bamako, Mali.
Service d'Hématologie et Oncologie médicale, CHU Point "G", Bamako, Mali.
出版信息
Health Sci Dis. 2022 Jul;23(7):6-9. Epub 2022 Jun 29.
OBJECTIVE
Chronic myeloid leukemia (CML) is a hematologic malignancy characterized by the presence of the Philadelphia chromosome or its molecular equivalent, the fusion gene. Diagnosis and monitoring of CML are done by detecting this chromosome, the gene, or the transcript. In Mali, genetic tools of diagnosis and follow-up are still lacking, so we did this study with the objectives of developing the FISH technique to diagnose, to follow up, and to characterize the cytogenetic profile of CML patients.
METHODS
We carried out FISH technique by using the dual color dual fusion probe for on interphase nuclei and metaphases. Slides were scanned with an epifluorescence microscope.
RESULTS
A total of 25 patients (16 for diagnostic and 9 for follow-up) were included. We achieved a 92% success rate for obtaining metaphases. The gene fusion signal was present in 22 patients. Among those 22 patients, 16 presented a typical signal pattern and 6 presented atypical signal patterns.
CONCLUSION
We set up the FISH technique in Mali for the diagnosis and the follow-up of CML patients and identified atypical translocation of t(9;22).
目的
慢性髓性白血病（CML）是一种血液系统恶性肿瘤，其特征是存在费城染色体或其分子等价物——融合基因。CML的诊断和监测通过检测该染色体、基因或转录本来完成。在马里，仍缺乏诊断和随访的基因工具，因此我们开展了本研究，目的是开发荧光原位杂交（FISH）技术来诊断、随访和表征CML患者的细胞遗传学特征。
方法
我们使用针对的双色双融合探针在间期核和中期进行FISH技术。用落射荧光显微镜扫描玻片。
结果
共纳入25例患者（16例用于诊断，9例用于随访）。我们获得中期细胞的成功率为92%。22例患者存在基因融合信号。在这22例患者中，16例呈现典型信号模式，6例呈现非典型信号模式。
结论
我们在马里建立了用于CML患者诊断和随访的FISH技术，并鉴定出t(9;22)的非典型易位。
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