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Whole-genome sequencing as an alternative to analyze copy number abnormalities in acute myeloid leukemia and myelodysplastic syndrome

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单位: [1]Zhengzhou Univ, Affiliated Canc Hosp, Cent Lab, Zhengzhou, Peoples R China [2]Henan Canc Hosp, Zhengzhou, Peoples R China [3]Zhengzhou Univ, Affiliated Hosp 1, Dept Hematol, Zhengzhou, Peoples R China [4]Shenyou Bio, Clin Labs, Zhengzhou, Peoples R China [5]Yancheng 1 Peoples Hosp, Dept Hematol, Yancheng, Peoples R China [6]Xuzhou Med Univ, Dept Hematol, Yancheng Clin Coll, Yancheng, Peoples R China [7]SeekIn Inc, Res & Dev, 11F,Bldg 2,DBH Life Sci Pk,2028 Shenyan Rd, Shenzhen, Peoples R China [8]China Japan Friendship Hosp, Dept Hematol, Beijing, Peoples R China [9]Henan Prov Peoples Hosp, Dept Hematol, Zhengzhou, Peoples R China [10]Yonsei Univ, Yonsei Song Dang Inst Canc Res, Seoul, South Korea
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关键词: Copy number aberrations sWGS myeloid neoplasms

摘要:
Copy number aberrations (CNA) are the core determinants for diagnosis, risk stratification and prognosis in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). In this study, a shallow whole-genome sequencing-based assay, LeukoPrint, was utilized to depict genomic CNA profiles from the bone marrow of 137 newly diagnosed AML/MDS patients. It demonstrated 98.1% concordance of CNA profiles with cytogenetics and/or fluorescence in situ hybridization (FISH). It is advantageous in detecting CNAs of short segments (1 Mb) and from samples with low leukemic cell content, more accurate for describing complex karyotypes and less confounded by subjective bias. LeukoPrint improved the overall diagnostic yield by redefining the risk categories for 16 patients by presenting new information. In summary, LeukoPrint provided an automated, convenient, and cost-effective approach to describe genomic CNA profiles. It brought greater diagnostic yield and risk stratification information by incorporating into the routine cytogenetics based on the CNA-related criteria of standard ELN/IPSS-R guidelines.

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出版当年[2021]版:
大类 | 4 区 医学
小类 | 4 区 肿瘤学 4 区 血液学
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 血液学 4 区 肿瘤学
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出版当年[2020]版:
Q3 HEMATOLOGY Q3 ONCOLOGY
最新[2023]版:
Q3 HEMATOLOGY Q3 ONCOLOGY

影响因子: 最新[2023版] 最新五年平均[2021-2025] 出版当年[2020版] 出版当年五年平均[2016-2020] 出版前一年[2019版] 出版后一年[2021版]

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第一作者单位: [1]Zhengzhou Univ, Affiliated Canc Hosp, Cent Lab, Zhengzhou, Peoples R China [2]Henan Canc Hosp, Zhengzhou, Peoples R China
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通讯机构: [1]Zhengzhou Univ, Affiliated Canc Hosp, Cent Lab, Zhengzhou, Peoples R China [2]Henan Canc Hosp, Zhengzhou, Peoples R China [7]SeekIn Inc, Res & Dev, 11F,Bldg 2,DBH Life Sci Pk,2028 Shenyan Rd, Shenzhen, Peoples R China [9]Henan Prov Peoples Hosp, Dept Hematol, Zhengzhou, Peoples R China [10]Yonsei Univ, Yonsei Song Dang Inst Canc Res, Seoul, South Korea [*1]Henan Prov Peoples Hosp, Zhengzhou, Peoples R China [*2]Zhengzhou Univ, Affiliated Canc Hosp, Zhengzhou, Peoples R China
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