{"doi":"10.1038/s41598-021-94539-0","title":"Prognostic impact of pre-transplant chromosomal aberrations in peripheral blood of patients undergoing unrelated donor hematopoietic cell transplant for acute myeloid leukemia","abstract":"To improve risk stratification and treatment decisions for patients with acute myeloid leukemia (AML) undergoing hematopoietic cell transplantation (HCT). We used SNP-array data from the DISCOVeRY-BMT study to detect chromosomal aberrations in pre-HCT peripheral blood (collected 2-4 weeks before the administration of conditioning regimen) from 1974 AML patients who received HCT between 2000 and 2011. All aberrations detected in ≥ 10 patients were tested for their association with overall survival (OS), separately by remission status, using the Kaplan-Meier estimator. Cox regression models were used for multivariable analyses. Follow-up was through January 2019. We identified 701 unique chromosomal aberrations in 285 patients (7% of 1438 in complete remission (CR) and 36% of 536 not in CR). Copy-neutral loss-of-heterozygosity (CNLOH) in chr17p in CR patients (3-year OS = 20% vs. 50%, with and without chr17p CNLOH, p = 0.0002), and chr13q in patients not in CR (3-year OS = 4% vs. 26%, with and without chr13q CNLOH, p < 0.0001) are risk factors for poor survival. Models adjusted for clinical factors showed approximately three-fold excess risk of post-HCT mortality with chr17p CNLOH in CR patients (hazard ratio, HR = 3.39, 95% confidence interval CI 1.74-6.60, p = 0.0003), or chr13q CNLOH in patients not in CR (HR = 2.68, 95% CI 1.75-4.09, p < 0.0001). The observed mortality was mostly driven by post-HCT relapse (HR = 2.47, 95% CI 1.01-6.02, p = 0.047 for chr17p CNLOH in CR patients, and HR = 2.58, 95% CI 1.63-4.08, p < 0.0001 for chr13q CNLOH in patients not in CR. Pre-transplant CNLOH in chr13q or chr17p predicts risk of poor outcomes after unrelated donor HCT in AML patients. A large prospective study is warranted to validate the results and evaluate novel strategies to improve survival in those patients.","journal":"Scientific Reports","year":2021,"id":196561,"datarank":0.29188652235829704,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"self_citation_contribution":0.29188652235829704,"citation_network_contribution":0.0,"self_endowment_contribution":0.29188652235829704,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":6,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9045,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":382571,"name":"Weiyin Zhou","orcid":"0000-0002-0467-3064","position":1,"is_corresponding":false},{"id":637752,"name":"Lisa J. 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Pasquini","orcid":"0000-0003-1579-2293","position":9,"is_corresponding":false},{"id":661502,"name":"Junke Wang","orcid":"0000-0002-3733-5192","position":10,"is_corresponding":false},{"id":758751,"name":"Ezgi Karaesmen","orcid":"0000-0002-0881-7424","position":11,"is_corresponding":false},{"id":759232,"name":"Abbas Rizvi","orcid":null,"position":12,"is_corresponding":false},{"id":759231,"name":"Leah Preus","orcid":null,"position":13,"is_corresponding":false},{"id":769167,"name":"Hancong Tang","orcid":"0000-0003-3986-0617","position":14,"is_corresponding":false},{"id":758753,"name":"Yiwen Wang","orcid":"0000-0003-2495-6552","position":15,"is_corresponding":false},{"id":291307,"name":"Loreall Pooler","orcid":"0000-0001-5388-6640","position":16,"is_corresponding":false},{"id":711,"name":"Xin Sheng","orcid":"0000-0002-6844-2740","position":17,"is_corresponding":false},{"id":11270,"name":"Christopher A. Haiman","orcid":"0000-0002-0097-9971","position":18,"is_corresponding":false},{"id":1839,"name":"David Van Den Berg","orcid":"0000-0002-5404-5218","position":19,"is_corresponding":false},{"id":122974,"name":"Stephen R. Spellman","orcid":"0000-0002-7271-8252","position":20,"is_corresponding":false},{"id":313705,"name":"Tao Wang","orcid":"0000-0002-2596-6843","position":21,"is_corresponding":false},{"id":633762,"name":"Michelle Kuxhausen","orcid":null,"position":22,"is_corresponding":false},{"id":6431,"name":"Stephen J. Chanock","orcid":"0000-0002-2324-3393","position":23,"is_corresponding":false},{"id":83997,"name":"Stephanie J. Lee","orcid":"0000-0003-2600-6390","position":24,"is_corresponding":false},{"id":363962,"name":"Theresa Hahn","orcid":"0000-0002-3835-8855","position":25,"is_corresponding":false},{"id":441671,"name":"Lara E. Sucheston‐Campbell","orcid":"0000-0002-2687-3112","position":26,"is_corresponding":false},{"id":284135,"name":"Shahinaz M. 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