ArticleHaematologica2021
Co-occurrence of cohesin complex and Ras signaling mutations during progression from myelodysplastic syndromes to secondary acute myeloid leukemia.
Article in Haematologica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- [Dynamic changes in genetic mutations in myelodysplastic neoplasms with progressive disease and leukemic transformation].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2025Article
- Emerging roles of cohesin-STAG2 in cancer.Oncogene · 2025Review
- Rat Sarcoma Virus Family Genes in Acute Myeloid Leukemia: Pathogenetic and Clinical Implications.Biomedicines · 2025Review
- AML typical mutations (CEBPA, FLT3, NPM1) identify a high-risk chronic myelomonocytic leukemia independent of CPSS molecular.Blood advances · 2025Article
- Outcomes and effect of somatic mutations after erythropoiesis stimulating agents in patients with lower-risk myelodysplastic syndromes.Therapeutic advances in hematology · 2024Article
- Mutational Profile Enables the Identification of a High-Risk Subgroup in Myelodysplastic Syndromes with Isolated Trisomy 8.Cancers · 2023Article
- Clinical and prognostic impact of STAG2 mutations in myeloid neoplasms: the Mayo Clinic experience.Blood advances · 2023Article
- [Risk factors for leukemia transformation in patients with myelodysplastic syndromes].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2022Article
- A cohesin-associated gene score may predict immune checkpoint blockade in hepatocellular carcinoma.FEBS open bio · 2022Article
- Convergent Clonal Evolution of Signaling Gene Mutations Is a Hallmark of Myelodysplastic Syndrome Progression.Blood cancer discovery · 2022Article
- Recurrent Germline Variant inInternational journal of molecular sciences · 2022Article
- The genetics of myelodysplastic syndromes and the opportunities for tailored treatments.Frontiers in oncology · 2022Review
- Prognosis in Myelodysplastic Syndromes: The Clinical Challenge of Genomic Integration.Journal of clinical medicine · 2021Review
- Novel Approaches to Target Mutant FLT3 Leukaemia.Cancers · 2020Review
Corrections and comments
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Authors and funding
21 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myelodysplastic syndromes (MDS) are hematological disorders at high risk of progression to secondary acute myeloid leukemia (sAML). However, the mutational dynamics and clonal evolution underlying disease progression are poorly understood at present. To elucidate the mutational dynamics of pathways and genes occurring during the evolution to sAML, next generation sequencing was performed on 84 serially paired samples of MDS patients who developed sAML (discovery cohort) and 14 paired samples from MDS patients who did not progress to sAML during follow-up (control cohort). Results were validated in an independent series of 388 MDS patients (validation cohort). We used an integrative analysis to identify how mutations, alone or in combination, contribute to leukemic transformation. The study showed that MDS progression to sAML is characterized by greater genomic instability and the presence of several types of mutational dynamics, highlighting increasing (STAG2) and newly-acquired (NRAS and FLT3) mutations. Moreover, we observed cooperation between genes involved in the cohesin and Ras pathways in 15-20% of MDS patients who evolved to sAML, as well as a high proportion of newly acquired or increasing mutations in the chromatin-modifier genes in MDS patients receiving a disease-modifying therapy before their progression to sAML.
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