{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T14:21:29Z","timestamp":1791469289776,"version":"4.3.4"},"reference-count":59,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"FPRC 5 \u00d7 1000 Ministero della Salute 2021 EMAGEN\u2014FaBer"},{"name":"Italian Ministry of Health, Ricerca Corrente 2025"},{"name":"Janssen Pharmaceutical Companies of Johnson &amp; Johnson"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Background\/Objectives. Recent evidence underscores the prognostic and classificatory relevance of somatic mutations in myelodysplastic neoplasms (MDSs) and acute myeloid leukemia (AML). Methods. This prospective study assessed gene mutation dynamics via next-generation sequencing (NGS) in 84 MDS\/AML patients treated with intensive chemotherapy or hypomethylating agents plus venetoclax. Results. At diagnosis, 95% had somatic mutations detected by NGS, while only 29% had a measurable residual disease (MRD) marker with qPCRs. NGS at complete remission (CR) was performed in 56\/71 patients who achieved CR; 59% had persisting mutations, mostly in DNMT3A, TET2, and ASXL1 (DTA mutations). Mutations\u2019 persistence in CR was linked to a shorter relapse-free survival (RFS; median 8 months vs. not reached, HR 4.41, 95% CI 1.69\u201311.49; p = 0.002) and overall survival (OS; 2-year OS: 51.5% vs. 88%, HR 4.02, 95% CI 1.39\u201311.65; p = 0.001). Combining NGS and multiparameter flow cytometry (MFC) for MRD detection, we divided patients into three groups with distinct RFS (NGS\u2212\/MFC\u2212, NGS\u2212\/MFC+, or NGS+\/MFC\u2212 and NGS+\/MFC+), with double-negative patients displaying the best RFS (p &lt; 0.001). In the multivariate analysis, NGS and MFC MRD+ were independent predictors of RFS. Conclusions. This real-world study confirms the added prognostic role of NGS in MRD detection on RFS, particularly when combined with MFC. This approach may improve risk stratification and guide treatment decisions.<\/jats:p>","DOI":"10.3390\/cancers17172874","type":"journal-article","created":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T14:02:46Z","timestamp":1756735366000},"page":"2874","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Integration of Next-Generation Sequencing in Measurable Residual Disease Monitoring in Acute Myeloid Leukemia and Myelodysplastic Neoplasm"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1912-0574","authenticated-orcid":false,"given":"Elena","family":"Cris\u00e0","sequence":"first","affiliation":[{"name":"Candiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Dogliotti","sequence":"additional","affiliation":[{"name":"Division of Hematology U, University Hospital A.O.U. \u201cCitt\u00e0 della Salute e della Scienza\u201d, University of Turin, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Lia","sequence":"additional","affiliation":[{"name":"Department of Molecular Biotechnologies and Health Sciences, University of Torino, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Cerrano","sequence":"additional","affiliation":[{"name":"Azienda Ospedaliero-Universitaria Citt\u00e0 della Salute e della Scienza di Torino, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernesta","family":"Audisio","sequence":"additional","affiliation":[{"name":"Azienda Ospedaliero-Universitaria Citt\u00e0 della Salute e della Scienza di Torino, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8114-0798","authenticated-orcid":false,"given":"Giuseppe","family":"Lanzarone","sequence":"additional","affiliation":[{"name":"Division of Hematology U, University Hospital A.O.U. \u201cCitt\u00e0 della Salute e della Scienza\u201d, University of Turin, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Brunello","sequence":"additional","affiliation":[{"name":"SCDU Ematologia, AOU SS Antonio e Biagio e Cesare Arrigo, 15121 Alessandria, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Caravelli","sequence":"additional","affiliation":[{"name":"Candiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Carnevale Schianca","sequence":"additional","affiliation":[{"name":"Candiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6728-5619","authenticated-orcid":false,"given":"Enrico","family":"Berrino","sequence":"additional","affiliation":[{"name":"Candiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy"},{"name":"Department of Medical Sciences, University of Torino, 10100 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara Erika","family":"Bellomo","sequence":"additional","affiliation":[{"name":"Candiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Bartolini","sequence":"additional","affiliation":[{"name":"Candiolo Cancer Institute, FPO-IRCCS, 10060 Candiolo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludovica","family":"Riera","sequence":"additional","affiliation":[{"name":"Molecular Pathology Unit, AOU Citt\u00e0 della Salute e della Scienza, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Francia di Celle","sequence":"additional","affiliation":[{"name":"Molecular Pathology Unit, AOU Citt\u00e0 della Salute e della Scienza, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4681-0151","authenticated-orcid":false,"given":"Gianluca","family":"Gaidano","sequence":"additional","affiliation":[{"name":"Division of Hematology, Department of Translational Medicine, University of Eastern Piedmont and AOU Maggiore della Carit\u00e0, 28100 Novara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monia","family":"Lunghi","sequence":"additional","affiliation":[{"name":"Division of Hematology, Department of Translational Medicine, University of Eastern Piedmont and AOU Maggiore della Carit\u00e0, 28100 Novara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0860-3266","authenticated-orcid":false,"given":"Luisa","family":"Giaccone","sequence":"additional","affiliation":[{"name":"Division of Hematology U, University Hospital A.O.U. \u201cCitt\u00e0 della Salute e della Scienza\u201d, University of Turin, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7299-6770","authenticated-orcid":false,"given":"Benedetto","family":"Bruno","sequence":"additional","affiliation":[{"name":"Division of Hematology U, University Hospital A.O.U. \u201cCitt\u00e0 della Salute e della Scienza\u201d, University of Turin, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1056\/NEJMra1406184","article-title":"Acute Myeloid 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