ArticlePloS one2016
The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 32 citations in OpenAlex.
- Review
- Ultra-late relapse of acute promyelocytic leukemia 18 years after complete remission: a case report and literature review.Frontiers in medicine · 2025Article
- 6-Gingerol modulates miRNAs and PODXL gene expression via methyltransferase enzymes in NB4 cells: an in silico and in vitro study.Scientific reports · 2024Article
- Dysfunction of ubiquitin protein ligaseNAR cancer · 2023Article
- The treatment of acute promyelocytic leukemia in 2023: Paradigm, advances, and future directions.Frontiers in oncology · 2022Review
- Acute promyelocytic leukemia with FIP1L1::RARA fusion gene: The clinical utility of transcriptome sequencing and bioinformatic analyses.Frontiers in oncology · 2022Article
- Myeloid Sarcoma Type of Acute Promyelocytic Leukemia With a Cryptic Insertion of RARA Into FIP1L1: The Clinical Utility of NGS and Bioinformatic Analyses.Frontiers in oncology · 2021Article
- A comprehensive review of genetic alterations and molecular targeted therapies for the implementation of personalized medicine in acute myeloid leukemia.Journal of molecular medicine (Berlin, Germany) · 2020Review
- Distinct mutational pattern of myelodysplastic syndromes with and without 5q- treated with lenalidomide.British journal of haematology · 2020Article
- Review
- Review
- Article
- Dual origin of relapses in retinoic-acid resistant acute promyelocytic leukemia.Nature communications · 2018Article
- Pml nuclear body disruption cooperates in APL pathogenesis and impairs DNA damage repair pathways in mice.Blood · 2018Article
- Differentiation therapy revisited.Nature reviews. Cancer · 2018Review
- Article
- PML-RARA-associated cooperating mutations belong to a transcriptional network that is deregulated in myeloid leukemias.Leukemia · 2017Article
- Comment on 'The incidence of leukaemia in women with BRCA1 and BRCA2 mutations: an International Prospective Cohort Study'.British journal of cancer · 2016Article
- A view on clinical genetics and genomics in Spain: of challenges and opportunities.Molecular genetics & genomic medicine · 2016Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Preliminary Acute Promyelocytic Leukemia (APL) whole exome sequencing (WES) studies have identified a huge number of somatic mutations affecting more than a hundred different genes mainly in a non-recurrent manner, suggesting that APL is a heterogeneous disease with secondary relevant changes not yet defined. To extend our knowledge of subtle genetic alterations involved in APL that might cooperate with PML/RARA in the leukemogenic process, we performed a comprehensive analysis of somatic mutations in APL combining WES with sequencing of a custom panel of targeted genes by next-generation sequencing. To select a reduced subset of high confidence candidate driver genes, further in silico analysis were carried out. After prioritization and network analysis we found recurrent deleterious mutations in 8 individual genes (STAG2, U2AF1, SMC1A, USP9X, IKZF1, LYN, MYCBP2 and PTPN11) with a strong potential of being involved in APL pathogenesis. Our network analysis of multiple mutations provides a reliable approach to prioritize genes for additional analysis, improving our knowledge of the leukemogenesis interactome. Additionally, we have defined a functional module in the interactome of APL. The hypothesis is that the number, or the specific combinations, of mutations harbored in each patient might not be as important as the disturbance caused in biological key functions, triggered by several not necessarily recurrent mutations.
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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.