{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T00:39:50Z","timestamp":1772843990376,"version":"3.50.1"},"reference-count":33,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2025,4,10]],"date-time":"2025-04-10T00:00:00Z","timestamp":1744243200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Cancer Institute","award":["R03 CA235101"],"award-info":[{"award-number":["R03 CA235101"]}]},{"name":"Pelotonia Intramural Research Funds from The James Cancer Center","award":["R03 CA235101"],"award-info":[{"award-number":["R03 CA235101"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Background\/Objectives: Tetraploidy (4n = 92 chromosomes) and near-tetraploidy (81\u2013103 chromosomes) (T\/NT) are uncommon cytogenetic events in MDS\/AML (~1%). Abnormalities reported to be associated with T\/NT MDS\/AML include \u22125\/del(5q), \u22127\/del(7q), +8, and +21. However, other clinically relevant abnormalities likely remain \u201chidden\u201d in long strings of ISCN cytogenetic nomenclature when evaluated visually. To date, no studies have had the statistical power and a computational method to identify novel recurrent abnormalities associated with the T\/NT karyotype or overall survival (OS). Methods: Using CytoGPS, a bioinformatic tool we developed, we converted karyotypes from a combined cohort of 75 T\/NT MDS\/AML cases from two institutions into a binary Loss\u2013Gain\u2013Fusion model, which is analyzable using computational methods. Results: On univariate analyses, age as a continuous variable (p = 0.032), prior treatment (p = 0.011), and cohort (p = 0.025) were associated with OS; age \u2265 60 years (p = 0.316), gender (p = 0.916), karyotypic complexity (p = 0.175), time from diagnosis to T\/NT karyotype identification (p = 0.419), and clone size (p = 0.316) had no effect. Univariate analyses of karyotypes demonstrated that \u22125, \u221216, \u221218, del(11)(p15.1p15.4), del(13)(q12.11q22.3), and +8 were associated with poorer OS (unadjusted p &lt; 0.05). Conclusions: Using the results of univariate analyses to build multivariate models of OS, the best predictor of OS was the presence of any one of these six cytogenetic abnormalities.<\/jats:p>","DOI":"10.3390\/cancers17081277","type":"journal-article","created":{"date-parts":[[2025,4,10]],"date-time":"2025-04-10T05:28:07Z","timestamp":1744262887000},"page":"1277","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel Recurrent Cytogenetic Abnormalities Predict Overall Survival in Tetraploid\/Near-Tetraploid Myelodysplastic Syndrome and Acute Myeloid Leukemia"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9516-5163","authenticated-orcid":false,"given":"Matthew R.","family":"Avenarius","sequence":"first","affiliation":[{"name":"Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zachary B.","family":"Abrams","sequence":"additional","affiliation":[{"name":"Institute for Informatics, Washington University in St. Louis, St. Louis, MO 63110, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James S.","family":"Blachly","sequence":"additional","affiliation":[{"name":"Division of Hematology, Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecelia R.","family":"Miller","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nyla A.","family":"Heerema","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9482-4806","authenticated-orcid":false,"given":"Guilin","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The UT M.D. Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7630-2123","authenticated-orcid":false,"given":"Kevin R.","family":"Coombes","sequence":"additional","affiliation":[{"name":"The Georgia Cancer Center at Augusta University, Augusta, GA 30912, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynne V.","family":"Abruzzo","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1182\/blood-2016-01-643569","article-title":"The 2016 Revision of the World Health Organization Classification of Lymphoid Neoplasms","volume":"127","author":"Swerdlow","year":"2016","journal-title":"Blood"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1111\/j.0141-9854.2003.00574.x","article-title":"Near-Triploidy and near-Tetraploidy in Hematological Malignancies and Mutation of the P53 Gene","volume":"26","author":"Watanabe","year":"2004","journal-title":"Clin. 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