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Tytuł:
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Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients.
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Autorzy:
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Ma J; 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.
Ai X; 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.
Wang J; Department of Oncology, The Second Hospital of Tianjin Medical University, No.23 Pingjiang Road, Hexi District, Tianjin, 300211, China.
Xing L; Hematology Department of General Hospital, Tianjin Medical University, No.154 Anshan Road, Heping District, Tianjin, 300052, China.
Tian C; 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.
Yang H; 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.
Yu Y; 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.
Zhao H; 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.
Wang X; 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.
Zhao Z; 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. .
Wang Y; 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. .
Cao Z; 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. .
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Źródło:
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Annals of hematology [Ann Hematol] 2021 Sep; Vol. 100 (9), pp. 2207-2214. Date of Electronic Publication: 2021 May 15.
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Typ publikacji:
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Journal Article
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Język:
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English
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Imprint Name(s):
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Publication: Berlin : Springer Verlag
Original Publication: Berlin ; New York : Springer International, c1991-
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MeSH Terms:
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Chromosome Aberrations*
Myelodysplastic Syndromes/*genetics
Adult ; Cytogenetic Analysis ; DNA Copy Number Variations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Karyotyping ; Male ; Middle Aged ; Multiplex Polymerase Chain Reaction
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References:
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Grant Information:
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81670102;81870150 National Natural Science Foundation of China; 81670104 National Natural Science Foundation of China
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Contributed Indexing:
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Keywords: Cytogenetic analysis; Multiplex ligation-dependent probe amplification; Normal karyotype; Myelodysplastic syndromes; Undetectable chromosome pattern
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Entry Date(s):
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Date Created: 20210515 Date Completed: 20210820 Latest Revision: 20240403
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Update Code:
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20240403
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PubMed Central ID:
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PMC8357724
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DOI:
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10.1007/s00277-021-04550-8
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PMID:
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33990890
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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.
(© 2021. The Author(s).)