PMID- 35695096 OWN - NLM STAT- MEDLINE DCOM- 20221011 LR - 20221121 IS - 1029-2403 (Electronic) IS - 1026-8022 (Linking) VI - 63 IP - 10 DP - 2022 Oct TI - Whole-genome sequencing as an alternative to analyze copy number abnormalities in acute myeloid leukemia and myelodysplastic syndrome. PG - 2301-2310 LID - 10.1080/10428194.2022.2080821 [doi] AB - 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. FAU - Lyu, Xiaodong AU - Lyu X AUID- ORCID: 0000-0002-0155-5927 AD - Central Laboratory, The Affiliated Cancer Hospital of Zhengzhou University and Henan Cancer Hospital, Zhengzhou, China. FAU - Li, Tao AU - Li T AD - Department of Hematology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. FAU - Zhu, Dandan AU - Zhu D AD - Clinical Laboratories, Shenyou Bio, Zhengzhou, China. FAU - Cheng, Yuexin AU - Cheng Y AD - Department of Hematology, Yancheng No. 1 People's Hospital, Yancheng, China. AD - Department of Hematology, The Yancheng Clinical College of Xuzhou Medical University, Yancheng, China. FAU - Chen, Yan AU - Chen Y AD - Research & Development, SeekIn Inc., Shenzhen, China. FAU - He, Xiangxiang AU - He X AD - Clinical Laboratories, Shenyou Bio, Zhengzhou, China. FAU - Li, Zhenling AU - Li Z AD - Department of Hematology, China-Japan Friendship Hospital, Beijing, China. FAU - Li, Shiyong AU - Li S AUID- ORCID: 0000-0003-0416-526X AD - Research & Development, SeekIn Inc., Shenzhen, China. FAU - Wu, Wei AU - Wu W AD - Research & Development, SeekIn Inc., Shenzhen, China. FAU - Geng, Shuaipeng AU - Geng S AD - Clinical Laboratories, Shenyou Bio, Zhengzhou, China. FAU - Zhang, Mengna AU - Zhang M AD - Clinical Laboratories, Shenyou Bio, Zhengzhou, China. FAU - Yao, Chunxiao AU - Yao C AD - Clinical Laboratories, Shenyou Bio, Zhengzhou, China. FAU - Li, Jingshuai AU - Li J AD - Clinical Laboratories, Shenyou Bio, Zhengzhou, China. FAU - Li, Yangwei AU - Li Y AD - Central Laboratory, The Affiliated Cancer Hospital of Zhengzhou University and Henan Cancer Hospital, Zhengzhou, China. FAU - Chang, Yinyin AU - Chang Y AD - Clinical Laboratories, Shenyou Bio, Zhengzhou, China. FAU - Li, Yuchun AU - Li Y AD - Central Laboratory, The Affiliated Cancer Hospital of Zhengzhou University and Henan Cancer Hospital, Zhengzhou, China. FAU - Zhu, Zunmin AU - Zhu Z AUID- ORCID: 0000-0002-6635-7454 AD - Department of Hematology, Henan Provincial People's Hospital, Zhengzhou, China. FAU - Mao, Mao AU - Mao M AUID- ORCID: 0000-0002-8570-8571 AD - Research & Development, SeekIn Inc., Shenzhen, China. AD - Yonsei Song-Dang Institute for Cancer Research, Yonsei University, Seoul, Korea. FAU - Song, Yongping AU - Song Y AD - Central Laboratory, The Affiliated Cancer Hospital of Zhengzhou University and Henan Cancer Hospital, Zhengzhou, China. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20220611 PL - United States TA - Leuk Lymphoma JT - Leukemia & lymphoma JID - 9007422 SB - IM MH - Abnormal Karyotype MH - Chromosome Aberrations MH - DNA Copy Number Variations MH - Humans MH - In Situ Hybridization, Fluorescence MH - *Leukemia, Myeloid, Acute/diagnosis/genetics MH - *Myelodysplastic Syndromes/diagnosis/genetics OTO - NOTNLM OT - Copy number aberrations OT - myeloid neoplasms OT - sWGS EDAT- 2022/06/14 06:00 MHDA- 2022/10/12 06:00 CRDT- 2022/06/13 05:53 PHST- 2022/06/14 06:00 [pubmed] PHST- 2022/10/12 06:00 [medline] PHST- 2022/06/13 05:53 [entrez] AID - 10.1080/10428194.2022.2080821 [doi] PST - ppublish SO - Leuk Lymphoma. 2022 Oct;63(10):2301-2310. doi: 10.1080/10428194.2022.2080821. Epub 2022 Jun 11.