{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T12:10:48Z","timestamp":1779192648611,"version":"3.51.4"},"reference-count":34,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T00:00:00Z","timestamp":1779148800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Investments and European Projects","award":["MySMIS 324809"],"award-info":[{"award-number":["MySMIS 324809"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The genomic landscape of myelodysplastic syndromes\/neoplasms (MDS), a heterogeneous group of myeloid malignancies defined by bone marrow cell dysplasia with ineffective hematopoiesis, includes somatic and, less frequently, germline mutations in hematopoietic stem and progenitor cells, along with chromosomal abnormalities. The latest World Health Organization 2022 classification of myeloid neoplasms, as well as stratification in lower-risk (LR) and higher-risk (HR) MDS using either the Revised International Prognostic Scoring System (IPSS-R) or the Molecular International Prognostic Scoring System (IPSS-M), guide prognostic assessment and risk-adjusted therapy. We report the case of an 81-year-old patient diagnosed with LR-MDS according to IPSS-R that exhibited direct progression to acute myeloid leukemia. The retrospective analysis of paired DNA samples from MDS and leukemic phases, obtained four months apart, using both targeted next-generation sequencing and single nucleotide polymorphism array, indicated swift alterations in the genomic profile, being suggested that the leukemic clone emerged from the clone harboring homozygous TET2 and heterozygous SRSF2 variants that acquired RUNX1, BCOR, BCORL1 likely pathogenic mutations and trisomy 13. By employing IPSS-M for prognostic evaluation at the MDS phase, the patient would have been assigned to the HR-MDS category with a possible benefit from hypomethylating agent therapy. Risk stratification is of pivotal importance in a patient-centered approach to MDS treatment being significantly improved by incorporating the molecular genetic findings.<\/jats:p>","DOI":"10.3390\/ijms27104557","type":"journal-article","created":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T11:53:10Z","timestamp":1779191590000},"page":"4557","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Critical Role of Molecular-Based Stratification in Low-Risk Myelodysplastic Syndrome with Direct Progression to Acute Myeloid Leukemia: A Case Report"],"prefix":"10.3390","volume":"27","author":[{"given":"Stejara Nicoleta","family":"Mihai","sequence":"first","affiliation":[{"name":"Faculty of Medicine, University of Medicine and Pharmacy Carol Davila Bucharest, 050474 Bucharest, Romania"},{"name":"Laboratory of Medical Analyses, Hematology, Dr. Carol Davila Central Military Emergency University Hospital, 010825 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5868-2636","authenticated-orcid":false,"given":"Denisa","family":"Dragu","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Pathology, Stefan S. Nicolau Institute of Virology, Romanian Academy, 030304 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Mambet","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Medicine and Pharmacy Carol Davila Bucharest, 050474 Bucharest, Romania"},{"name":"Department of Cellular and Molecular Pathology, Stefan S. Nicolau Institute of Virology, Romanian Academy, 030304 Bucharest, Romania"},{"name":"Hematology Department, University Emergency Hospital of Bucharest, 050098 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1502-9733","authenticated-orcid":false,"given":"Anca","family":"Botezatu","sequence":"additional","affiliation":[{"name":"Molecular Virology Department, Stefan S. Nicolau Institute of Virology, Romanian Academy, 030304 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petruta","family":"Gurban","sequence":"additional","affiliation":[{"name":"Cytogenomic Medical Laboratory, 014453 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura G.","family":"Necula","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Pathology, Stefan S. Nicolau Institute of Virology, Romanian Academy, 030304 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4479-655X","authenticated-orcid":false,"given":"Lilia","family":"Matei","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Pathology, Stefan S. Nicolau Institute of Virology, Romanian Academy, 030304 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Iulia","family":"Neagu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Medicine and Pharmacy Carol Davila Bucharest, 050474 Bucharest, Romania"},{"name":"Department of Cellular and Molecular Pathology, Stefan S. Nicolau Institute of Virology, Romanian Academy, 030304 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7440-9798","authenticated-orcid":false,"given":"Ioana","family":"Pitica","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Pathology, Stefan S. Nicolau Institute of Virology, Romanian Academy, 030304 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marius","family":"Ataman","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Pathology, Stefan S. Nicolau Institute of Virology, Romanian Academy, 030304 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saviana","family":"Nedeianu","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Pathology, Stefan S. Nicolau Institute of Virology, Romanian Academy, 030304 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7512-4700","authenticated-orcid":false,"given":"Mihaela","family":"Chivu-Economescu","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Pathology, Stefan S. Nicolau Institute of Virology, Romanian Academy, 030304 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9031-338X","authenticated-orcid":false,"given":"Coralia","family":"Bleotu","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Pathology, Stefan S. Nicolau Institute of Virology, Romanian Academy, 030304 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catalina Roxana","family":"Grosu-Ferea","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Analyses, Hematology, Dr. Carol Davila Central Military Emergency University Hospital, 010825 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Ciufu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Medicine and Pharmacy Carol Davila Bucharest, 050474 Bucharest, Romania"},{"name":"Hematology Bone Marrow Transplant, University Emergency Hospital of Bucharest, 050098 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen C.","family":"Diaconu","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Pathology, Stefan S. Nicolau Institute of Virology, Romanian Academy, 030304 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Maria","family":"Vladareanu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Medicine and Pharmacy Carol Davila Bucharest, 050474 Bucharest, Romania"},{"name":"Hematology Department, University Emergency Hospital of Bucharest, 050098 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,5,19]]},"reference":[{"key":"ref_1","first-page":"300","article-title":"Diagnosis of myelodysplastic syndromes: The classic and the novel","volume":"110","author":"Oster","year":"2025","journal-title":"Haematologica"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1182\/blood.2023020078","article-title":"Diagnosis and classification of myelodysplastic syndromes","volume":"142","author":"Hasserjian","year":"2023","journal-title":"Blood"},{"key":"ref_3","first-page":"283","article-title":"Pathogenesis and inflammaging in myelodysplastic syndrome","volume":"110","author":"Villaume","year":"2025","journal-title":"Haematologica"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"5925","DOI":"10.1038\/s41598-022-09864-9","article-title":"Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes","volume":"12","author":"Maurya","year":"2022","journal-title":"Sci. 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