Pros and Cons for Fluorescent in Situ Hybridization, Karyotyping and Next Generation Sequencing for Diagnosis and Follow-up of Multiple Myeloma

荧光原位杂交、核型分析和下一代测序在多发性骨髓瘤诊断和随访中的利弊

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作者:E Ikbal Atli, H Gurkan, H Onur Kirkizlar, E Atli, S Demir, S Yalcintepe, R Kalkan, A M Demir

Abstract

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 in situ 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.

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