荧光杂交、核型分析和下一代测序在多发性骨髓瘤诊断及随访中的利弊
Pros and Cons for Fluorescent Hybridization, Karyotyping and Next Generation Sequencing for Diagnosis and Follow-up of Multiple Myeloma.
作者信息
Ikbal Atli E, Gurkan H, Onur Kirkizlar H, Atli E, Demir S, Yalcintepe S, Kalkan R, Demir A M
机构信息
Department of Medical Genetics, Faculty of Medicine, Edirne, Trakya University, Edirne, Turkey.
Department of Hematology, Faculty of Medicine, Trakya University, Edirne, Turkey.
出版信息
Balkan J Med Genet. 2021 Mar 23;23(2):59-64. doi: 10.2478/bjmg-2020-0020. eCollection 2020 Nov.
Multiple myeloma (MM) is one of the plasma cell-related hematological malignancies exceeding 10.0% of all marrow cells, and they make a paraprotein that is a marker of the disease. Myeloma is one of the most common types of hematological malignancies in humans. Genetic bio-markers have been used for prognostic markers in patients diagnosed with MM. The genetic and genomic changes have been identified using karyotyping, fluorescent hybridization (FISH), next generation sequencing (NGS), specifically whole-genome sequencing or exome sequencing. Circulatory plasma cells, circulating free DNA (cfD-NA) and microRNAs (miRNAs) comprised in liquid biopsy are potentially used in diagnosis/prognosis of MM. In this study, we analyzed and compared results of karyo-typing, FISH and NGS in 35 MM cases. Diagnostic strategies are expanding rapidly and newly developed NGS-based testing may help the understanding of the complexities of genetic alterations in karyotypically normal cases.
多发性骨髓瘤（MM）是一种浆细胞相关的血液系统恶性肿瘤，其骨髓细胞占比超过10.0%，并且会产生一种作为该疾病标志物的副蛋白。骨髓瘤是人类最常见的血液系统恶性肿瘤类型之一。基因生物标志物已被用作诊断MM患者的预后标志物。通过核型分析、荧光原位杂交（FISH）、新一代测序（NGS），特别是全基因组测序或外显子组测序，已确定了基因和基因组变化。液体活检中包含的循环浆细胞、循环游离DNA（cfDNA）和微小RNA（miRNA）可能用于MM的诊断/预后评估。在本研究中，我们分析并比较了35例MM病例的核型分析、FISH和NGS结果。诊断策略正在迅速扩展，新开发的基于NGS的检测可能有助于理解核型正常病例中基因改变的复杂性。
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