Clinical correlation and prognostic impact of cytogenetic clone size for myelodysplastic syndromes/neoplasm

{"title":"Clinical correlation and prognostic impact of cytogenetic clone size for myelodysplastic syndromes/neoplasm","authors":"Zhuoer Xie ,&nbsp;Najla Al Ali ,&nbsp;Ling Zhang ,&nbsp;Peter Papenhausen ,&nbsp;Virginia Olivia Volpe ,&nbsp;Onyee Chan ,&nbsp;Andrew Kuykendall ,&nbsp;Seongseok Yun ,&nbsp;Alison Walker ,&nbsp;Kendra Sweet ,&nbsp;Jeffrey E. Lancet ,&nbsp;Eric Padron ,&nbsp;David A. Sallman ∗ ,&nbsp;Rami S. Komrokji ∗","doi":"10.1016/j.bneo.2024.100062","DOIUrl":null,"url":null,"abstract":"<div><h3>Abstract</h3><div>Most myelodysplastic syndromes/neoplasms (MDS) risk stratification models dichotomize conventional cytogenetic abnormalities into present or absent, neglecting the prognostic impact of clone size (percentage of the total cells/metaphases harboring the chromosome abnormality). We investigated the prognostic value of clone size in 1001 patients with MDS using G-banding and fluorescence in situ hybridization. Clone size correlated with anemia severity and thrombocytosis in del(5q) cases, and with anemia and blast percentage in complex karyotypes. <em>TP53</em> mutation prevalence was significantly elevated in patients with clone size of ≥25% compared with those with &lt;25% (34.2% vs 3%; <em>P</em> = .07). Complex karyotypes with clone size of ≥75% demonstrated superior response to hypomethylating agents (20.8% vs 10%; <em>P</em> = .03). Crucially, clone size of ≥25% independently predicted overall survival and leukemia-free survival, regardless of revised International Prognostic Scoring System (IPSS) or molecular IPSS. Our findings establish clone size as a robust prognostic factor in MDS, warranting its integration into clinical practice and potential incorporation into risk stratification models.</div></div>","PeriodicalId":100189,"journal":{"name":"Blood Neoplasia","volume":"2 2","pages":"Article 100062"},"PeriodicalIF":0.0000,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Blood Neoplasia","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2950328024000621","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}