Research Papers:

Detection of recurrent cytogenetic aberrations in multiple myeloma: A comparison between MLPA and iFISH

Meirong Zang _, Dehui Zou, Zhen Yu, Fei Li, Shuhua Yi, Xiaofei Ai, Xiaoqi Qin, Xiaoyan Feng, Wen Zhou, Yan Xu, Zengjun Li, Mu Hao, Weiwei Sui, Shuhui Deng, Chirag Acharya, Yaozhong Zhao, Kun Ru, Lugui Qiu and Gang An

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Oncotarget. 2015; 6:34276-34287. https://doi.org/10.18632/oncotarget.5371

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Meirong Zang1,*, Dehui Zou1,*, Zhen Yu1, Fei Li4, Shuhua Yi1, Xiaofei Ai1, Xiaoqi Qin1, Xiaoyan Feng1,3, Wen Zhou1,2, Yan Xu1, Zengjun Li1, Mu Hao1, Weiwei Sui1, Shuhui Deng1, Chirag Acharya3, Yaozhong Zhao1, Kun Ru1, Lugui Qiu1, Gang An1,3

1State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Tianjin, China

2Cancer Research Institute, Key Laboratory of Carcinogenesis of Ministry of Health and Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, Central South University, Changsha, Hunan, China

3LeBow Institute for Myeloma Therapeutics and Jerome Lipper Center for Multiple Myeloma Center, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA

4Department of Hematology, The First Affiliated Hospital of Nanchang University, Jiangxi, Nanchang, China

*These authors have contributed equally to this work

Correspondence to:

Gang An, e-mail: [email protected]

Keywords: multiple myeloma, cytogenetic aberration, multiplex ligation-dependent probe amplification, interphase fluorescence in situ hybridization

Received: June 27, 2015     Accepted: September 04, 2015     Published: September 17, 2015


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.

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