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Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients

Chromosomal abnormalities play an important role in classification and prognostication of myelodysplastic syndrome (MDS) patients. However, more than 50% of low-risk MDS patients harbor a normal karyotype. Recently, multiplex ligation-dependent probe amplification (MLPA) has emerged as an effective...

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Autores principales: Ma, Jing, Ai, Xiaofei, Wang, Jinhuan, Xing, Limin, Tian, Chen, Yang, Hongliang, Yu, Yong, Zhao, Haifeng, Wang, Xiaofang, Zhao, Zhigang, Wang, Yafei, Cao, Zeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8357724/
https://www.ncbi.nlm.nih.gov/pubmed/33990890
http://dx.doi.org/10.1007/s00277-021-04550-8
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author Ma, Jing
Ai, Xiaofei
Wang, Jinhuan
Xing, Limin
Tian, Chen
Yang, Hongliang
Yu, Yong
Zhao, Haifeng
Wang, Xiaofang
Zhao, Zhigang
Wang, Yafei
Cao, Zeng
author_facet Ma, Jing
Ai, Xiaofei
Wang, Jinhuan
Xing, Limin
Tian, Chen
Yang, Hongliang
Yu, Yong
Zhao, Haifeng
Wang, Xiaofang
Zhao, Zhigang
Wang, Yafei
Cao, Zeng
author_sort Ma, Jing
collection PubMed
description Chromosomal abnormalities play an important role in classification and prognostication of myelodysplastic syndrome (MDS) patients. However, more than 50% of low-risk MDS patients harbor a normal karyotype. Recently, multiplex ligation-dependent probe amplification (MLPA) has emerged as an effective and robust method for the detection of cytogenetic aberrations in MDS patients. To characterize the subset of MDS with normal karyotype or failed chromosome banding analysis, we analyzed 144 patient samples with normal karyotype or undetectable through regular chromosome banding analysis, which were subjected to parallel comparison via fluorescence in situ hybridization (FISH) and MLPA. MLPA identifies copy number changes in 16.7% of 144 MDS patients, and we observed a significant difference in overall survival (OS) (median OS: undefined vs 27 months, p=0.0071) in patients with normal karyotype proved by MLPA versus aberrant karyotype cohort as determined by MLPA. Interestingly, patients with undetectable karyotype via regular chromosome banding indicated inferior outcome. Collectively, MDS patients with normal or undetectable karyotype via chromosome banding analysis can be further clarified by MLPA, providing more prognostic information that benefit for individualized therapy. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00277-021-04550-8.
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spelling pubmed-83577242021-08-30 Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients Ma, Jing Ai, Xiaofei Wang, Jinhuan Xing, Limin Tian, Chen Yang, Hongliang Yu, Yong Zhao, Haifeng Wang, Xiaofang Zhao, Zhigang Wang, Yafei Cao, Zeng Ann Hematol Original Article Chromosomal abnormalities play an important role in classification and prognostication of myelodysplastic syndrome (MDS) patients. However, more than 50% of low-risk MDS patients harbor a normal karyotype. Recently, multiplex ligation-dependent probe amplification (MLPA) has emerged as an effective and robust method for the detection of cytogenetic aberrations in MDS patients. To characterize the subset of MDS with normal karyotype or failed chromosome banding analysis, we analyzed 144 patient samples with normal karyotype or undetectable through regular chromosome banding analysis, which were subjected to parallel comparison via fluorescence in situ hybridization (FISH) and MLPA. MLPA identifies copy number changes in 16.7% of 144 MDS patients, and we observed a significant difference in overall survival (OS) (median OS: undefined vs 27 months, p=0.0071) in patients with normal karyotype proved by MLPA versus aberrant karyotype cohort as determined by MLPA. Interestingly, patients with undetectable karyotype via regular chromosome banding indicated inferior outcome. Collectively, MDS patients with normal or undetectable karyotype via chromosome banding analysis can be further clarified by MLPA, providing more prognostic information that benefit for individualized therapy. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s00277-021-04550-8. Springer Berlin Heidelberg 2021-05-15 2021 /pmc/articles/PMC8357724/ /pubmed/33990890 http://dx.doi.org/10.1007/s00277-021-04550-8 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Article
Ma, Jing
Ai, Xiaofei
Wang, Jinhuan
Xing, Limin
Tian, Chen
Yang, Hongliang
Yu, Yong
Zhao, Haifeng
Wang, Xiaofang
Zhao, Zhigang
Wang, Yafei
Cao, Zeng
Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients
title Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients
title_full Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients
title_fullStr Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients
title_full_unstemmed Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients
title_short Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients
title_sort multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype mds patients
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8357724/
https://www.ncbi.nlm.nih.gov/pubmed/33990890
http://dx.doi.org/10.1007/s00277-021-04550-8
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