biostudies-literatureTorres-Hernandez NInstituto de Salud Carlos IIIFundación Española de Hematología y HemoterapiaAsociación Valenciana de Hematología y HemoterapiaMinisterio de Ciencia e InnovaciónScientific Foundation of the Spanish Association Against CancerDepartment of Education, Culture, Universities and Employment of the Generalitat Valenciana85https://www.ebi.ac.uk/biostudies/studies/S-EPMC12949018biostudies-literatureUnknown10(1)Cytogenetic and molecular studies are the standard of care in the diagnosis of myelodysplastic neoplasms (MDS) and acute myeloid leukemia (AML), which are characterized by a highly heterogeneous genetic landscape. This complexity challenges accurate characterization, risk stratification, and treatment decision-making. Optical Genome Mapping (OGM) is emerging as a high-resolution technique capable of detecting cryptic structural variants (SVs) and copy number changes (CNVs). In this study, we analyzed 150 MDS and AML patients using standard diagnostic methods and complemented by OGM to assess its utility in resolving complex karyotypes and uncovering hidden genomic aberrations. The results revealed novel alterations and refined previous cytogenetic results (e.g., breakpoints, translocation NPJ precision oncologyOptical genome mapping as a high-resolution tool for uncovering cytogenetic complex and cryptic alterations in a cohort of patients with MDS and AML.PMC12949018CLJUN235179DIAZCIACIF/2022/1342022-939-1_CRC_FEHH_GARCIAAVHH/2022CP25/00068PID2021-126138OB-I00Mora ELiquori ADiaz-Gonzalez AAvetisyan GTormo MRodriguez BLSuch ERomero-Casanova ABenet CGarcia-Ruiz CBerenguer-Rubio ABotella CTorres-Hernandez Nde la Rubia JMartinez-Campuzano DCortti-Ferrari MJGomez-Catalan IJimenez-Esteso MCervera JBarragan EfalseOptical genome mapping as a high-resolution tool for uncovering cytogenetic complex and cryptic alterations in a cohort of patients with MDS and AML.Cytogenetic and molecular studies are the standard of care in the diagnosis of myelodysplastic neoplasms (MDS) and acute myeloid leukemia (AML), which are characterized by a highly heterogeneous genetic landscape. This complexity challenges accurate characterization, risk stratification, and treatment decision-making. Optical Genome Mapping (OGM) is emerging as a high-resolution technique capable of detecting cryptic structural variants (SVs) and copy number changes (CNVs). In this study, we analyzed 150 MDS and AML patients using standard diagnostic methods and complemented by OGM to assess its utility in resolving complex karyotypes and uncovering hidden genomic aberrations. The results revealed novel alterations and refined previous cytogenetic results (e.g., breakpoints, translocation 2026-01-01T00:00:00Z2026 Jan2026-07-16T23:35:29.844Z2026-07-12T03:11:38.06ZS-EPMC129490184150139310.1038/s41698-025-01258-0