ArticleBMC cancer2008
Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.
Article in BMC cancer, 2008. 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, 118 citations in OpenAlex.
- Molecular Pathogenesis of Chronic Myelomonocytic Leukemia and Potential Molecular Targets for Treatment Approaches.Frontiers in oncology · 2021Pooled it
- Array comparative genomic hybridisation in haematological malignancies: A comprehensive review.African journal of laboratory medicine · 2026Review
- Chronic myelomonocytic leukemia: 2024 update on diagnosis, risk stratification and management.American journal of hematology · 2024Review
- Article
- Identification and classification of papain-like cysteine proteinases.The Journal of biological chemistry · 2023Article
- Review
- Review
- Contemporary Risk Stratification and Treatment of Chronic Myelomonocytic Leukemia.The oncologist · 2021Review
- Molecular Pathogenesis ofFrontiers in oncology · 2021Review
- CRISPR-Cas9 Editing of Human Histone Deubiquitinase GeneFrontiers in cell and developmental biology · 2021Article
- Correlation of RAS-Pathway Mutations and Spontaneous Myeloid Colony Growth with Progression and Transformation in Chronic Myelomonocytic Leukemia-A Retrospective Analysis in 337 Patients.International journal of molecular sciences · 2020Article
- Proposed diagnostic criteria for classical chronic myelomonocytic leukemia (CMML), CMML variants and pre-CMML conditions.Haematologica · 2019Review
- The role of ubiquitin-specific peptidases in cancer progression.Journal of biomedical science · 2019Review
- Clonal Hematopoiesis with Oncogenic Potential (CHOP): Separation from CHIP and Roads to AML.International journal of molecular sciences · 2019Review
- The Deubiquitinase USP46 Is Essential for Proliferation and Tumor Growth of HPV-Transformed Cancers.Molecular cell · 2018Article
- Chronic myelomonocytic leukemia: 2018 update on diagnosis, risk stratification and management.American journal of hematology · 2018Review
- Number of RUNX1 mutations, wild-type allele loss and additional mutations impact on prognosis in adult RUNX1-mutated AML.Leukemia · 2018Article
- Relevance of Fusion Genes in Pediatric Cancers: Toward Precision Medicine.Molecular therapy. Nucleic acids · 2017Review
- Article
- Review
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundChronic myelomonocytic leukemia (CMML) is a hematological disease close to, but separate from both myeloproliferative disorders (MPD) and myelodysplastic syndromes and may show either myeloproliferative (MP-CMML) or myelodysplastic (MD-CMML) features. Not much is known about the molecular biology of this disease.
methodsWe studied a series of 30 CMML samples (13 MP- and 11 MD-CMMLs, and 6 acutely transformed cases) from 29 patients by using Agilent high density array-comparative genomic hybridization (aCGH) and sequencing of 12 candidate genes.
resultsTwo-thirds of samples did not show any obvious alteration of aCGH profiles. In one-third we observed chromosome abnormalities (e.g. trisomy 8, del20q) and gain or loss of genes (e.g. NF1, RB1 and CDK6). RAS mutations were detected in 4 cases (including an uncommon codon 146 mutation in KRAS) and PTPN11 mutations in 3 cases. We detected 11 RUNX1 alterations (9 mutations and 2 rearrangements). The rearrangements were a new, cryptic inversion of chromosomal region 21q21-22 leading to break and fusion of RUNX1 to USP16. RAS and RUNX1 alterations were not mutually exclusive. RAS pathway mutations occurred in MP-CMMLs (approximately 46%) but not in MD-CMMLs. RUNX1 alterations (mutations and cryptic rearrangement) occurred in both MP and MD classes (~38%).
conclusionWe detected RAS pathway mutations and RUNX1 alterations. The latter included a new cryptic USP16-RUNX1 fusion. In some samples, two alterations coexisted already at this early chronic stage.
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Registered trials
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.