10-year nationwide trends in incidence, treatment patterns, and mortality of patients with myelodysplastic syndromes in Denmark

Lauritsen, Tine Bichel; Nørgaard, Jan Maxwell; Dalton, Susanne Oksbjerg; Grønbæk, Kirsten; El‐Galaly, Tarec Christoffer; Østgård, Lene Sofie Granfeldt

doi:10.1016/j.leukres.2023.107056

Cited by 4 publications

(1 citation statement)

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“…While MDS is primarily found in people over 65, it accounts for less than 5% of childhood cancers [2]. Despite the fact that out of every 100,000 individuals under 70, 40-50 have MDS, emphasizing its higher frequency in older age groups, the age-standardized incidence of MDS, a rare illness, ranges from 1.3 to 4.3 per 100,000 person-years and rises steadily with age [3,4]. The current research indicates that 80-90% of individuals with MDS present repetitive changes in multiple genes [5].…”

Section: Introductionmentioning

confidence: 99%

Integrated Multi-Cohort Analysis of Whole-Genome and Transcriptome Data Reveals Interplay between Metabolism and Methylation in Myelodysplastic Syndrome (MDS)

Alzamzami,

Alatawi

2024

Preprint

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Objectives: Metabolic interactions amongst mutated genes in myelodysplastic syndrome (MDS) offer promising avenues for novel anticancer treatments. Our comprehensive study delves into these mutational and transcriptomic landscapes, pinpointing hallmark gene mutations and deregulated gene expression that could influence MDS patients’ metabolomes. Methods: The study utilized a retrospective, cross-sectional approach, employing mutational data on the cBio Cancer Genomics Portal conducted and reported by the University of Tokyo in 2011 and multi-center MDS cohorts regulated by Wellcome Trust Sanger Institute, United Kingdom, all in 2020. For transcriptomic data, we selected three publicly accessible independent cohorts on the Gene Expression Omnibus (GEO) database (GSE114922 in Wellcome Trust Centre for Human Genetics, United Kingdome, GSE63569 in University of Oxford, United Kingdome, and GSE183328 in CIMA, Spain) held in 2015, 2018, and 2022, respectively. To compile clinical, mutational, and transcriptomic data on MDS patients from multiple datasets and studies. This meta-analysis included genomic data derived from cellular genomics sources to assess mutations in specific genes, alongside an examination of transcriptomic data from three separate datasets that have been previously published. Results: DNMT3A presented a 20% mutation frequency, playing a pivotal role in MDS metabolomics. The DNMT3A gene mutations displayed significant mutual exclusivity with the SRSF2, ASXL1, JAK2, and TP53 genes. The mutational analysis also showed that the gene expression landscape in MDS is associated with alterations to DNA methylation pathways. Conclusion: This analysis suggests a potential therapeutic niche. Identifying signature genes in MDS that have metabolic and methylation affiliations could illuminate the disease's intricate biology and inspire novel treatments.

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