ArticleLeukemia2022
High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic significance.
Article in Leukemia, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.
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Who cites it
56 citing papers in PubMed, 1 synthesis or guideline pooled it, 89 citations in OpenAlex.
- Contemporary Approach to the Diagnosis and Classification of Myelodysplastic Neoplasms/Syndromes-Recommendations From the International Consortium for Myelodysplastic Neoplasms/Syndromes (MDS [icMDS]).Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2024Guideline
- Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia.The Journal of pathology · 2026Article
- Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.Human genetics · 2026Article
- Myelodysplastic Syndromes: 2026 Update on Diagnosis, Risk-Stratification and Management.American journal of hematology · 2026Review
- Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia.International journal of cancer · 2026Article
- Optical genome mapping improves detection and characterisation of cytogenetic abnormalities in non-Hodgkin lymphomas.British journal of haematology · 2026Article
- Article
- Optical genome mapping reveals a recurrent translocation, t(14;16), in T/myeloid mixed phenotype acute leukemia: report of two cases.Molecular cytogenetics · 2026Article
- Aberrant CD25 and Increased CD123 Expression Are Common in Acute Myeloid Leukemia withCancers · 2026Article
- Optical genome mapping as a high-resolution tool for uncovering cytogenetic complex and cryptic alterations in a cohort of patients with MDS and AML.NPJ precision oncology · 2026Article
- Elucidating the pathogenic mechanism of a pedigree with complex rearrangements on chromosome 4 using optical genome mapping technology: a study on the genetics and functional pathways in a child with developmental delay.Molecular cytogenetics · 2025Article
- Optical genome mapping reveals complex cytogenetic abnormalities in multiple myeloma.Haematologica · 2025Article
- Successful optical genome mapping from 500 000 cells: A low-input UHMW DNA extraction approach.MethodsX · 2025Article
- 14,441 Genomics-Based Validated Automated Comprehensive Clinicopathologic Correlations for Myeloid Neoplasms.Scientific data · 2025Article
- Pilot evaluation of optical genome mapping in chronic lymphocytic leukemia: complementing FISH analysis.BMC cancer · 2025Article
- Myelodysplastic syndromes: Updates on Genomic Landscape, Molecular Subtypes, & Targeted Therapies.Current hematologic malignancy reports · 2025Review
- Identification of an F8 complex recombination in Chinese hemophilia a patient using long-read sequencing and optical genome mapping.BMC medical genomics · 2025Article
- Genomic Evaluation of AML-Main Techniques and Novel Approaches.Journal of clinical medicine · 2025Review
- Review
- What the VAF? A guide to the interpretation of variant allele fraction, percent mosaicism, and copy number in cancer.Molecular cytogenetics · 2025Review
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17 authors at 1 institution in 1 country.
Funding
Abstract
Chromosome banding analysis (CBA) remains the standard-of-care for structural variant (SV) assessment in MDS. Optical genome mapping (OGM) is a novel, non-sequencing-based technique for high-resolution genome-wide SV profiling (SVP). We explored the clinical value of SVP by OGM in 101 consecutive, newly diagnosed MDS patients from a single-center, who underwent standard-of-care cytogenetic and targeted NGS studies. OGM detected 383 clinically significant, recurrent and novel SVs. Of these, 224 (51%) SVs, seen across 34% of patients, were cryptic by CBA (included rearrangements involving MECOM, NUP98::PRRX2, KMT2A partial tandem duplications among others). SVP decreased the proportion of normal karyotype by 16%, identified complex genomes (17%), chromothripsis (6%) and generated informative results in both patients with insufficient metaphases. Precise gene/exon-level mapping allowed assessment of clinically relevant biomarkers (TP53 allele status, KMT2A-PTD) without additional testing. SV data was complementary to NGS. When applied in retrospect, OGM results changed the comprehensive cytogenetic scoring system (CCSS) and R-IPSS risk-groups in 21% and 17% patients respectively with an improved prediction of prognosis. By multivariate analysis, CCSS by OGM only (not CBA), TP53 mutation and BM blasts independently predicted survival. This is the first and largest study reporting the value of combined SVP and NGS for MDS prognostication.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.