ArticleHuman mutation2015
The mutational landscape in pediatric acute lymphoblastic leukemia deciphered by whole genome sequencing.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 50 citations in OpenAlex.
- An integrative molecular map of pediatric B-cell precursor acute lymphoblastic leukemia.Communications medicine · 2026Article
- CX‑5461 potentiates imatinib‑induced apoptosis in K562 cells by stimulatingExperimental and therapeutic medicine · 2024Article
- From early methods for DNA diagnostics to genomes and epigenomes at high resolution during four decades - a personal perspective.Upsala journal of medical sciences · 2024Review
- Advances in next-generation sequencing for relapsed pediatric acute lymphoblastic leukemia: current insights and future directions.Frontiers in genetics · 2024Review
- Somatic mutations of MLL4/COMPASS induce cytoplasmic localization providing molecular insight into cancer prognosis and treatment.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia.NPJ precision oncology · 2023Article
- Development of anMolecular therapy. Methods & clinical development · 2023Article
- Context-Dependent Functions of KDM6 Lysine Demethylases in Physiology and Disease.Advances in experimental medicine and biology · 2023Article
- Genetic features of B-cell lymphoblastic lymphoma with TCF3-PBX1.Cancer reports (Hoboken, N.J.) · 2022Article
- Technical Validation and Clinical Utility of an NGS Targeted Panel to Improve Molecular Characterization of Pediatric Acute Leukemia.Frontiers in molecular biosciences · 2022Article
- One Omics Approach Does Not Rule Them All: The Metabolome and the Epigenome Join Forces in Haematological Malignancies.Epigenomes · 2021Review
- Article
- PDX models reflect the proteome landscape of pediatric acute lymphoblastic leukemia but divert in select pathways.Journal of experimental & clinical cancer research : CR · 2021Article
- Article
- The evolution of relapse of adult T cell acute lymphoblastic leukemia.Genome biology · 2020Article
- Genetic mutational analysis of pediatric acute lymphoblastic leukemia from a single center in China using exon sequencing.BMC cancer · 2020Article
- Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia by linked-read whole-genome sequencing.Scientific reports · 2020Article
- Detection of novel fusion-transcripts by RNA-Seq in T-cell lymphoblastic lymphoma.Scientific reports · 2019Article
- Mathematical models of amino acid panel for assisting diagnosis of children acute leukemia.Journal of translational medicine · 2019Article
- Polycomb complexes in normal and malignant hematopoiesis.The Journal of cell biology · 2019Review
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Authors and funding
21 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genomic characterization of pediatric acute lymphoblastic leukemia (ALL) has identified distinct patterns of genes and pathways altered in patients with well-defined genetic aberrations. To extend the spectrum of known somatic variants in ALL, we performed whole genome and transcriptome sequencing of three B-cell precursor patients, of which one carried the t(12;21)ETV6-RUNX1 translocation and two lacked a known primary genetic aberration, and one T-ALL patient. We found that each patient had a unique genome, with a combination of well-known and previously undetected genomic aberrations. By targeted sequencing in 168 patients, we identified KMT2D and KIF1B as novel putative driver genes. We also identified a putative regulatory non-coding variant that coincided with overexpression of the growth factor MDK. Our results contribute to an increased understanding of the biological mechanisms that lead to ALL and suggest that regulatory variants may be more important for cancer development than recognized to date. The heterogeneity of the genetic aberrations in ALL renders whole genome sequencing particularly well suited for analysis of somatic variants in both research and diagnostic applications.
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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.