评估传统细胞遗传学和荧光原位杂交法检测多发性骨髓瘤患者细胞遗传学异常的灵敏度:一项回顾性研究

IF 0.4 4区 医学
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引用次数: 0

摘要

背景:鉴定多发性骨髓瘤(MM)患者的基因异常对设计治疗和管理方案尤为重要。因此,有必要使用灵敏度高的诊断方法来检测异常。在这项研究中,我们探讨了传统细胞遗传学方法和 FISH 方法在诊断 MM 患者基因异常方面的灵敏度。方法:这项回顾性研究纳入了 2009-2019 年间转诊至 Kariminejhad 遗传异常诊断中心的 246 名患者。所有患者的诊断均基于诊断测试以及相关医生的批准。细胞遗传异常的诊断基于常规细胞遗传学和 FISH 两种方法。结果结果显示,在接受常规细胞遗传学检查的 246 名患者中,只有 17.8%的患者核型异常。而在 67 名接受 FISH 检查的患者中,64.1% 的患者结果异常。结果还显示,在 50 名核型正常的患者中,有 31 人的 FISH 结果异常。在本研究中,结果显示 25% 的患者有超二倍体(57-47),这是通过常规细胞遗传学诊断出来的。此外,40.90%的患者存在二倍体异常(假二倍体或结构异常)。FISH 检测出 27.9% 的患者存在 del 13q,18.6% 的患者存在 t(11;14) IGH-CCND1,与其他异常相比,这两种异常最为常见。结论考虑到世界各地的突变和易位种类繁多,而且每天都有新的突变被检测到,因此同时使用这两种方法有助于鉴别遗传疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Evaluation of the Sensitivity of Conventional Cytogenetic and Fluorescence in Situ Hybridization Methods for the Detection of Cytogenetic Abnormalities in Multiple Myeloma Patients: A Retrospective Study
Background: Identification of genetic abnormalities in multiple myeloma (MM) patients is of particular importance in order to design their treatment and management. Therefore, it is necessary to use the diagnostic methods with high sensitivity to detect abnormalities. In this study, we investigated the sensitivity of conventional cytogenetic and FISH methods in the diagnosis of genetic abnormalities in MM patients. Methods: This retrospective study included 246 patients who referred to the Kariminejhad Center for the Diagnosis of Genetic Abnormalities between 2009-2019. All patients were diagnosed based on diagnostic tests, as well as the approval of the relevant physician. The diagnosis of cytogenetic abnormality was made based on the two methods of conventional cytogenetic and FISH. Result: The results showed that out of 246 patients examined by conventional cytogenetic, only 17.8% had abnormal karyotypes. While out of 67 patients examined by FISH, 64.1% had abnormal results. The results also showed that 31 out of 50 patients with normal karyotype had abnormal FISH result. In the present study, the results showed that 25% of the patients had hyperdiploidy (57-47), which was diagnosed by conventional cytogenetic. Also, 40.90% had diploid abnormalities (pseudodiploid or structural abnormalities). FISH detected del 13q in 27.9% and t(11;14) IGH-CCND1 in 18.6% of patients, which were the most frequent compared to other abnormalities. Conclusion: Considering that the variety of mutations and translocations is high in different parts of the world and every day new mutations are detected, using both methods together can help to identify genetic disorders.
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来源期刊
Iranian Red Crescent Medical Journal
Iranian Red Crescent Medical Journal 医学-医学:内科
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期刊介绍: The IRANIAN RED CRESCENT MEDICAL JOURNAL is an international, English language, peer-reviewed journal dealing with general Medicine and Surgery, Disaster Medicine and Health Policy. It is an official Journal of the Iranian Hospital Dubai and is published monthly. The Iranian Red Crescent Medical Journal aims at publishing the high quality materials, both clinical and scientific, on all aspects of Medicine and Surgery
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