ArticleProceedings of the National Academy of Sciences of the United States of America2005
Diagnostic tool for the identification of MLL rearrangements including unknown partner genes.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.
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Who cites it
65 citing papers in PubMed, 177 citations in OpenAlex.
- Trial
- Genomic fusion breakpoints for DNA-based measurable residual disease monitoring in pediatric acute lymphoblastic leukemia.Leukemia · 2026Article
- Insights into KMT2A rearrangements in acute myeloid leukemia: from molecular characteristics to targeted therapies.Biomarker research · 2025Review
- Unveiling the Complexity ofCancers · 2024Article
- Genomic breakpoint-specific monitoring of measurable residual disease in pediatric non-standard-risk acute myeloid leukemia.Haematologica · 2024Article
- Genomic DNA-based measurable residual disease monitoring in pediatric acute myeloid leukemia: unselected consecutive cohort study.Leukemia · 2024Article
- Molecular characterization of TCF3::PBX1 chromosomal breakpoints in acute lymphoblastic leukemia and their use for measurable residual disease assessment.Scientific reports · 2023Article
- The KMT2A recombinome of acute leukemias in 2023.Leukemia · 2023Article
- Article
- The Absence of Retroelement Activity Is Characteristic for Childhood Acute Leukemias and Adult Acute Lymphoblastic Leukemia.International journal of molecular sciences · 2022Article
- Article
- Clinical Implications of Minimal Residual Disease Detection in Infants WithJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2021Article
- MLL-SEPT5 Fusion Transcript in Myelodysplastic Syndrome Patient With t(11;22)(q23;q11).Frontiers in medicine · 2021Article
- Genetic Influence on Frequencies of Myeloid-Derived Cell Subpopulations in Mouse.Frontiers in immunology · 2021Article
- Article
- An extra chromosome 9 derived from either a normal chromosome 9 or a derivative chromosome 9 in a patient with acute myeloid leukemia positive for t(9;11)(p21.3;q23.3): A case report.Oncology letters · 2019Article
- Human MLL/KMT2A gene exhibits a second breakpoint cluster region for recurrent MLL-USP2 fusions.Leukemia · 2019Article
- Identification of enhancer of mRNA decapping 4 as a novel fusion partner ofBlood advances · 2019Article
- DNA Double Strand Breaks and Chromosomal Translocations Induced by DNA Topoisomerase II.Frontiers in molecular biosciences · 2019Review
- The MLL recombinome of acute leukemias in 2017.Leukemia · 2018Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Approximately 50 different chromosomal translocations of the human MLL gene are currently known and associated with high-risk acute leukemia. The large number of different MLL translocation partner genes makes a precise diagnosis a demanding task. After their cytogenetic identification, only the most common MLL translocations are investigated by RT-PCR analyses, whereas infrequent or unknown MLL translocations are excluded from further analyses. Therefore, we aimed at establishing a method that enables the detection of any MLL rearrangement by using genomic DNA isolated from patient biopsy material. This goal was achieved by establishing a universal long-distance inverse-PCR approach that allows the identification of any kind of MLL rearrangement if located within the breakpoint cluster region. This method was applied to biopsy material derived from 40 leukemia patients known to carry MLL abnormalities. Thirty-six patients carried known MLL fusions (34 with der(11) and 2 with reciprocal alleles), whereas 3 patients were found to carry novel MLL fusions to ACACA, SELB, and SMAP1, respectively. One patient carried a genomic fusion between MLL and TIRAP, resulting from an interstitial deletion. Because of this interstitial deletion, portions of the MLL and TIRAP genes were deleted, together with 123 genes located within the 13-Mbp interval between both chromosomal loci. Therefore, this previously undescribed diagnostic tool has been proven successful for analyzing any MLL rearrangement including previously unrecognized partner genes. Furthermore, the determined patient-specific fusion sequences are useful for minimal residual disease monitoring of MLL associated acute leukemias.
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