PMID- 33990890 OWN - NLM STAT- MEDLINE DCOM- 20210820 LR - 20240403 IS - 1432-0584 (Electronic) IS - 0939-5555 (Print) IS - 0939-5555 (Linking) VI - 100 IP - 9 DP - 2021 Sep TI - Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients. PG - 2207-2214 LID - 10.1007/s00277-021-04550-8 [doi] AB - 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. CI - (c) 2021. The Author(s). FAU - Ma, Jing AU - Ma J AD - Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China. FAU - Ai, Xiaofei AU - Ai X AD - Department of Pathology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 288 Nanjing Road, Heping District, Tianjin, 300020, China. FAU - Wang, Jinhuan AU - Wang J AD - Department of Oncology, The Second Hospital of Tianjin Medical University, No.23 Pingjiang Road, Hexi District, Tianjin, 300211, China. FAU - Xing, Limin AU - Xing L AD - Hematology Department of General Hospital, Tianjin Medical University, No.154 Anshan Road, Heping District, Tianjin, 300052, China. FAU - Tian, Chen AU - Tian C AD - Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China. FAU - Yang, Hongliang AU - Yang H AD - Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China. FAU - Yu, Yong AU - Yu Y AD - Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China. FAU - Zhao, Haifeng AU - Zhao H AD - Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China. FAU - Wang, Xiaofang AU - Wang X AD - Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China. FAU - Zhao, Zhigang AU - Zhao Z AD - Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China. goodluckzho001@163.com. FAU - Wang, Yafei AU - Wang Y AD - Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China. drwang2005@163.com. FAU - Cao, Zeng AU - Cao Z AUID- ORCID: 0000-0003-1089-5808 AD - Department of Hematology and Blood and Marrow Transplantation, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Huan-Hu-Xi Road, Ti-Yuan-Bei, Hexi District, Tianjin, 300060, China. caozeng1@sina.com. LA - eng GR - 81670102;81870150/National Natural Science Foundation of China/ GR - 81670104/National Natural Science Foundation of China/ PT - Journal Article DEP - 20210515 PL - Germany TA - Ann Hematol JT - Annals of hematology JID - 9107334 SB - IM MH - Adult MH - *Chromosome Aberrations MH - Cytogenetic Analysis MH - DNA Copy Number Variations MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotype MH - Karyotyping MH - Male MH - Middle Aged MH - Multiplex Polymerase Chain Reaction MH - Myelodysplastic Syndromes/*genetics PMC - PMC8357724 OTO - NOTNLM OT - Cytogenetic analysis OT - Multiplex ligation-dependent probe amplification; Normal karyotype OT - Myelodysplastic syndromes OT - Undetectable chromosome pattern COIS- The authors declare no competing interests. EDAT- 2021/05/16 06:00 MHDA- 2021/08/21 06:00 PMCR- 2021/05/15 CRDT- 2021/05/15 06:13 PHST- 2020/11/19 00:00 [received] PHST- 2021/05/01 00:00 [accepted] PHST- 2021/05/16 06:00 [pubmed] PHST- 2021/08/21 06:00 [medline] PHST- 2021/05/15 06:13 [entrez] PHST- 2021/05/15 00:00 [pmc-release] AID - 10.1007/s00277-021-04550-8 [pii] AID - 4550 [pii] AID - 10.1007/s00277-021-04550-8 [doi] PST - ppublish SO - Ann Hematol. 2021 Sep;100(9):2207-2214. doi: 10.1007/s00277-021-04550-8. Epub 2021 May 15.