Genomic Landscape of Myelodysplastic Syndromes

Dear Colleagues,

The genomic landscape of MDS is complex and heterogeneous, involving a multitude of genetic and epigenetic alterations that drive disease pathogenesis and progression. Understanding these molecular mechanisms is essential for improving risk stratification, developing targeted therapies, and ultimately improving outcomes for patients with MDS.

We encourage researchers to submit articles in this Special Issue dedicated to the diagnostic, prognostic, predictive implications  as well as minimial-residual diesease monitoring of genetic and epigenetic alterations in myelodysplastic syndromes. These may include following aspects:

1. Cytogenetic Abnormalities: MDS is associated with recurrent qualititative and quantitative cytogenetic abnormalities. These abnormalities can be assessed by conventional or array-based cytogenetic analyses. Alterations by conventional cytogenetics are important prognostic markers and guide risk stratification as well as treatment decisions, whereas the clinical impact of abnormalities assesed by novel approaches remais less clear.
2. Somatic Mutations: Numerous somatic mutations have been identified in MDS, affecting genes involved in RNA splicing (e.g., SF3B1, SRSF2), epigenetic regulation (e.g., DNMT3A, TET2), and signaling pathways (e.g., TP53, NRAS). They have been recently incorporeted in risk stratification and treatment decisions.
3. Clonal Evolution: MDS is characterized by clonal heterogeneity and evolution. It remains unclear, how these should be monitored for clinical decision making.
4. Epigenetic Alterations: Dysregulation of DNA methylation, histone modifications, and chromatin remodeling plays a crucial role in MDS pathogenesis. Aberrant DNA methylation patterns are associated with silencing of tumor suppressor genes and dysregulated gene expression. It remains unclear, how these should be measured in a stadardized and reproducible way,
5. Clonal Hematopoiesis of Indeterminate Potential: CHIP is a precursor to MDS and AML, highlighting the importance of identifying individuals at risk for disease progression. It remains unclear, how these should be monitored for clinical decision making.
6. Therapeutic Implications: Advances in genomic profiling have led to the development of targeted therapies and personalized treatment approaches in MDS. Targeting specific mutations, such as IDH1/2 or SF3B1, shows promising efficacy in subsets of patients.

We look forward to receiving your contributions to further elucidate the genomic landscape of MDS and ultimately offer the potential for better outcomes for patients with this complex disorder.

Prof. Dr. Nicolas Bonadies
Guest Editor

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• myelodysplastic syndrome
• hematology
• myelomonocytic leukemia
• myeloproliferative neoplasms
• genomics