ArticleEuropean journal of haematology2019
Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia.
Article in European journal of haematology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow-Up of the Fetuses.Prenatal diagnosis · 2026Article
- Genomic Evaluation of AML-Main Techniques and Novel Approaches.Journal of clinical medicine · 2025Review
- Tumor ploidy determination in low-pass whole genome sequencing and allelic copy number visualization using the Constellation Plot.Genome biology · 2025Article
- Mate-pair sequencing assisted prenatal counseling for a rare complex chromosomal rearrangement carrier.Human molecular genetics · 2025Article
- Abnormalities in Chromosomes 5 and 7 in Myelodysplastic Syndrome and Acute Myeloid Leukemia.Annals of laboratory medicine · 2025Review
- Genomic technologies for detecting structural variations in hematologic malignancies.Blood research · 2024Review
- Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation.Case reports in genetics · 2024Article
- Identification of cryptic balanced translocations in couples with unexplained recurrent pregnancy loss based upon embryonic PGT-A results.Journal of assisted reproduction and genetics · 2024Article
- Prospective evaluation of genome sequencing to compare conventional cytogenetics in acute myeloid leukemia.Blood cancer journal · 2023Article
- Optical genome mapping in acute myeloid leukemia: a multicenter evaluation.Blood advances · 2023Article
- Mate Pair Sequencing: Next-Generation Sequencing for Structural Variant Detection.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Characterization of unusual iAMP21 B-lymphoblastic leukemia (iAMP21-ALL) from the Mayo Clinic and Children's Oncology Group.Genes, chromosomes & cancer · 2022Article
- Article
- Increased complexity of t(11;14) rearrangements in plasma cell neoplasms compared with mantle cell lymphoma.Genes, chromosomes & cancer · 2021Article
- The Prognostic Role of MYC Structural Variants Identified by NGS and FISH in Multiple Myeloma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2021Article
- Myeloid malignancies with 5q and 7q deletions are associated with extreme genomic complexity, biallelic TP53 variants, and very poor prognosis.Blood cancer journal · 2021Article
- Diagnostic challenges in an aggressive case of peripheralizing marginal zone lymphoma.Clinical case reports · 2020Article
- Chromosomal abnormality, laboratory techniques, tools and databases in molecular Cytogenetics.Molecular biology reports · 2020Review
- Mate pair sequencing outperforms fluorescence in situ hybridization in the genomic characterization of multiple myeloma.Blood cancer journal · 2019Article
- Characterization of TCF3 rearrangements in pediatric B-lymphoblastic leukemia/lymphoma by mate-pair sequencing (MPseq) identifies complex genomic rearrangements and a novel TCF3/TEF gene fusion.Blood cancer journal · 2019Article
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18 authors.
Funding
Abstract
objectiveAcute myeloid leukemia (AML) can be subtyped based on recurrent cytogenetic and molecular genetic abnormalities with diagnostic and prognostic significance. Although cytogenetic characterization classically involves conventional chromosome and/or fluorescence in situ hybridization (FISH) assays, limitations of these techniques include poor resolution and the inability to precisely identify breakpoints.
methodWe evaluated whether an NGS-based methodology that detects structural abnormalities and copy number changes using mate pair sequencing (MPseq) can enhance the diagnostic yield for patients with AML.
resultsUsing 68 known abnormal and 20 karyotypically normal AML samples, each recurrent primary AML-specific abnormality previously identified in the abnormal samples was confirmed using MPseq. Importantly, in eight cases with abnormalities that could not be resolved by conventional cytogenetic studies, MPseq was utilized to molecularly define eight recurrent AML-fusion events. In addition, MPseq uncovered two cryptic abnormalities that were missed by conventional cytogenetic studies. Thus, MPseq improved the diagnostic yield in the detection of AML-specific structural rearrangements in 10/88 (11%) of cases analyzed.
conclusionUtilization of MPseq represents a precise, molecular-based technique that can be used as an alternative to conventional cytogenetic studies for newly diagnosed AML patients with the potential to revolutionize the diagnosis of hematologic malignancies.
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