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.
基金:
Key Medical Science and Technology Research Projects [SBGJ202002026]
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
通讯作者:
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
推荐引用方式(GB/T 7714):
Lyu Xiaodong,Li Tao,Zhu Dandan,et al.Whole-genome sequencing as an alternative to analyze copy number abnormalities in acute myeloid leukemia and myelodysplastic syndrome[J].LEUKEMIA & LYMPHOMA.2022,doi:10.1080/10428194.2022.2080821.
APA:
Lyu, Xiaodong,Li, Tao,Zhu, Dandan,Cheng, Yuexin,Chen, Yan...&Song, Yongping.(2022).Whole-genome sequencing as an alternative to analyze copy number abnormalities in acute myeloid leukemia and myelodysplastic syndrome.LEUKEMIA & LYMPHOMA,,
MLA:
Lyu, Xiaodong,et al."Whole-genome sequencing as an alternative to analyze copy number abnormalities in acute myeloid leukemia and myelodysplastic syndrome".LEUKEMIA & LYMPHOMA .(2022)