ArticleOncotarget2017
Recurrent genetic defects on chromosome 5q in myeloid neoplasms.
Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 42 citations in OpenAlex.
- Defining a Subgroup of Myelodysplastic Syndrome Patients With Very Poor-Risk Cytogenetics Demonstrating a Relatively More Favorable Outcome After Allogeneic Hematopoietic Cell Transplantation.American journal of hematology · 2026Article
- Abnormalities in Chromosomes 5 and 7 in Myelodysplastic Syndrome and Acute Myeloid Leukemia.Annals of laboratory medicine · 2025Review
- Plasma miR-145-5p Levels and Risk of Future Cancer-Results from the HUNT Study.International journal of molecular sciences · 2025Article
- Rare Hematologic Malignancies and Pre-Leukemic Entities in Children and Adolescents Young Adults.Cancers · 2024Review
- Inactivation of p53 provides a competitive advantage to del(5q) myelodysplastic syndrome hematopoietic stem cells during inflammation.Haematologica · 2023Article
- Molecular Drivers of Myelodysplastic Neoplasms (MDS)-Classification and Prognostic Relevance.Cells · 2023Review
- Myelodysplastic Syndromes with Isolated del(5q): Value of Molecular Alterations for Diagnostic and Prognostic Assessment.Cancers · 2022Review
- Cytogenetic and Genetic Abnormalities with Diagnostic Value in Myelodysplastic Syndromes (MDS): Focus on the Pre-Messenger RNA Splicing Process.Diagnostics (Basel, Switzerland) · 2022Review
- Lamin B1 deletion in myeloid neoplasms causes nuclear anomaly and altered hematopoietic stem cell function.Cell stem cell · 2022Article
- Genetic barcoding systematically compares genes in del(5q) MDS and reveals a central role for CSNK1A1 in clonal expansion.Blood advances · 2022Article
- TLR7 ligation augments hematopoiesis in Rps14 (uS11) deficiency via paradoxical suppression of inflammatory signaling.Blood advances · 2021Article
- Clinical features ofTherapeutic advances in hematology · 2021Review
- Prognostic Markers of Myelodysplastic Syndromes.Medicina (Kaunas, Lithuania) · 2020Review
- Review
- Hallmarks of ribosomopathies.Nucleic acids research · 2020Review
- Context is everything: aneuploidy in cancer.Nature reviews. Genetics · 2020Review
- Genetic abnormalities and pathophysiology of MDS.International journal of clinical oncology · 2019Review
- Article
- Cancer Biogenesis in Ribosomopathies.Cells · 2019Review
- Prognostic Significance of Complex Karyotypes in Acute Myeloid Leukemia.Current treatment options in oncology · 2019Review
Corrections and comments
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Authors and funding
23 authors at 10 institutions in 3 countries.
Funding
Abstract
backgroundDeletion of chromosome 5q (del(5q)) is the most common karyotypic abnormality in myeloid neoplasms. MATERIALS AND
methodsTo define the pathogenic molecular features associated with del(5q), next-generation sequencing was applied to 133 patients with myeloid neoplasms (MDS; N = 69, MDS/MPN; N = 5, sAML; N = 29, pAML; N = 30) with del(5q) as a sole abnormally or a part of complex karyotype and results were compared to molecular features of patients diploid for chr5.
findingsA number of 5q genes with haploinsufficient expression and/or recurrent somatic mutations were identified; for these genes, CSNK1A1 and G3BP1 within the commonly deleted 5q region and DDX41 within a commonly retained region were most commonly affected by somatic mutations. These genes showed consistent haploinsufficiency in deleted cases; low expression/mutations of G3BP1 or DDX41 were associated with poor survival, likely due to decreased cellular function. The most common mutations on other chromosomes in patients with del(5q) included TP53, and mutations of FLT3 (ITD or TKD), NPM1 or TET2 and were mutually exclusive. Serial sequencing allowed for definition of clonal architecture and dynamics, in patients with exome sequencing allelic imbalance for informative SNPs facilitated simultaneous approximation of clonal size of del(5q) and clonal burden for somatic mutations.
interpretationOur results illuminate the spectrum of molecular defects characteristic of del(5q), their clinical impact and succession of stepwise evolution.
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