Detection of recurrent cytogenetic aberrations in multiple myeloma: a comparison between MLPA and iFISH.
Detection of recurrent cytogenetic aberrations in multiple myeloma: a comparison between MLPA and iFISH.
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多发性骨髓瘤复发性细胞遗传学畸变的检测：MLPA 与 iFISH 的比较
DOI：
10.18632/oncotarget.5371
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发表时间：
2015-10-27
期刊：
影响因子：
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通讯作者：
An G
中科院分区：
文献类型：
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作者：
Zang M;Zou D;Yu Z;Li F;Yi S;Ai X;Qin X;Feng X;Zhou W;Xu Y;Li Z;Hao M;Sui W;Deng S;Acharya C;Zhao Y;Ru K;Qiu L;An G
多发性骨髓瘤（MM）是一种具有多种临床特征和预后的遗传异质性疾病。最近，多重连接依赖探针扩增（MLPA）已成为检测MM患者细胞遗传学畸变的有效而可靠的方法。本研究应用MLPA分析方法对59例MM标本的CD138肿瘤细胞进行细胞遗传学分析，并与间期荧光原位杂交（iFISH）数据进行回顾性比较。我们首先使用健康的供体样本建立了42种诊断探针的正常范围。59例患者共检出151个畸变，49/59例（83.1%）存在至少一个拷贝数变异。总体而言，MLPA每例检测到0-7个畸变，表明MM细胞遗传学的异质性和复杂性。我们证明了MLPA的高效率和两种方法在评估细胞遗传畸变方面的高度一致性。考虑到当畸变仅存在于一小部分肿瘤细胞中时，MLPA分析是不可靠的，因此有必要同时使用MLPA和fish作为辅助技术来诊断MM。
Multiple myeloma (MM) is a genetically heterogeneous disease with diverse clinical characteristics and outcomes. Recently, multiplex ligation-dependent probe amplification (MLPA) has emerged as an effective and robust method for the detection of cytogenetic aberrations in MM patients. In the present study, MLPA analysis was applied to analyze cytogenetics of CD138 tumor cells of 59 MM samples, and its result was compared, retrospectively, with the interphase fluorescence in situ hybridization (iFISH) data. We firstly established the normal range of each of the 42 diagnostic probes using healthy donor samples. A total of 151 aberrations were detected in 59 patient samples, and 49/59 cases (83.1%) harbored at least one copy number variation. Overall, 0–7 aberrations were detected per case using MLPA, indicating the heterogeneity and complexity of MM cytogenetics. We showed the high efficiency of MLPA and the high congruency of the two methods to assess cytogenetic aberrations. Considering that MLPA analysis is not reliable when the aberration only exits in a small population of tumor cells, it is essential to use both MLPA and iFISH as complementary techniques for the diagnosis of MM.