ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2012
Topography, clinical, and genomic correlates of 5q myeloid malignancies revisited.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers.
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71 citing papers in PubMed, 108 citations in OpenAlex.
- Article
- FBXO11 suppression rewires an NPM1-centered interactome influencing the progression of myelodysplastic syndrome.The Journal of clinical investigation · 2026Article
- Clinical and Biological Insights into Myelodysplastic Neoplasms Associated with Deletions of Chromosome 5q Region.Hematology reports · 2025Review
- Unveiling CrypticInternational journal of molecular sciences · 2025Article
- Article
- Abnormalities in Chromosomes 5 and 7 in Myelodysplastic Syndrome and Acute Myeloid Leukemia.Annals of laboratory medicine · 2025Review
- Article
- DELE1 haploinsufficiency causes resistance to mitochondrial stress-induced apoptosis in monosomy 5/del(5q) AML.Leukemia · 2024Article
- Cytogenetic profile of 1791 adult acute myeloid leukemia in India.Molecular cytogenetics · 2023Article
- Unsupervised meta-clustering identifies risk clusters in acute myeloid leukemia based on clinical and genetic profiles.Communications medicine · 2023Article
- How I Manage Transplant Ineligible Patients with Myelodysplastic Neoplasms.Clinical hematology international · 2023Review
- Myelodysplastic Syndromes with Isolated del(5q): Value of Molecular Alterations for Diagnostic and Prognostic Assessment.Cancers · 2022Review
- Myelodysplastic syndromes with del(5q): A real-life study of determinants of long-term outcomes and response to lenalidomide.Blood cancer journal · 2022Article
- Myelodysplastic Syndrome: Diagnosis and Screening.Diagnostics (Basel, Switzerland) · 2022Review
- Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.EBioMedicine · 2022Article
- Eukaryotic ribosome quality control system: a potential therapeutic target for human diseases.International journal of biological sciences · 2022Review
- The epigenetic regulator RINF (CXXC5) maintainsHaematologica · 2022Article
- Canonical Wnt: a safeguard and threat for erythropoiesis.Blood advances · 2021Review
- Myelodysplastic syndromes and overlap syndromes.Blood research · 2021Review
- Functional analyses of human LUC7-like proteins involved in splicing regulation and myeloid neoplasms.Cell reports · 2021Article
11 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 1 institution.
Funding
Abstract
purposeInterstitial deletions of chromosome 5q are common in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), pointing toward the pathogenic role of this region in disease phenotype and clonal evolution. The higher level of resolution of single-nucleotide polymorphism array (SNP-A) karyotyping may be used to find cryptic abnormalities and to precisely define the topographic features of the genomic lesions, allowing for more accurate clinical correlations. PATIENTS AND
methodsWe analyzed high-density SNP-A karyotyping at diagnosis for a cohort of 1,155 clinically well-annotated patients with malignant myeloid disorders. results: We identified chromosome 5q deletions in 142 (12%) of 1,155 patients and uniparental disomy segments (UPD) in four (0.35%) of 1,155 patients. Patients with deletions involving the centromeric and telomeric extremes of 5q have a more aggressive disease phenotype and additional chromosomal lesions. Lesions not involving the centromeric or telomeric extremes of 5q are not exclusive to 5q- syndrome but can be associated with other less aggressive forms of MDS. In addition, larger 5q deletions are associated with either del(17p) or UPD17p. In 31 of 33 patients with del(5q) AML, either a deletion involving the centromeric and/or telomeric regions or heterozygous mutations in NPM1 or MAML1 located in 5q35 were present.
conclusionOur results suggest that the extent of the affected region on 5q determines clinical characteristics that can be further modified by heterozygous mutations present in the telomeric extreme.
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