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About this Research Topic

Manuscript Submission Deadline 14 February 2024

Myelodysplastic neoplasm comprises a heterogeneous group of clonal stem cell diseases with an increased risk of progression to acute myeloid leukemia (AML). MDS occurs preferentially in adult patients, mainly the elderly. MDS is rare in children and it is biologically different from adults. Allogeneic stem ...

Myelodysplastic neoplasm comprises a heterogeneous group of clonal stem cell diseases with an increased risk of progression to acute myeloid leukemia (AML). MDS occurs preferentially in adult patients, mainly the elderly. MDS is rare in children and it is biologically different from adults. Allogeneic stem cell transplantation is the only potentially curative treatment. De novo AML represents the most common type of acute leukemia in adults and it is also rare in children. According to age, it is possible to identify cytogenetic and molecular (genetic and epigenetic) profiles with clinical impact. Current therapies may fail to eliminate the total number of leukemic cells which may be associated with cytogenetic and molecular clonal evolution and changes in the bone marrow (BM) microenvironment causing disease relapse. Although there have been advances in technical methodologies, it is necessary to apply these new results for a better understanding of the biology of MDS and de novo AML, and consequently characterize the mechanisms associated with treatment failure, as well as the development of new therapies.

This Research Topic aims to highlight the most recent advances focusing on cytogenetics, genomic and epigenomic changes in hematopoietic cells and the BM microenvironment of MDS and AML and their clinical implications (how these abnormalities impact the response of current treatment for MDS and de novo AML patients), suggesting disease evolution models and a potential biomarkers for diagnosis, risk stratification and treatment response prediction.

This Research Topic welcomes Original Research, Reviews, and Case Reports covering, but not limited to, the following topics:

-Chromosomal abnormalities and their impact in clinical follow-up in pediatric and adult patients with MDS and AML

-Germinative and somatic genetic variants and their interpretations (pathogenic, like-pathogenic and VUS) for the MDS and AML biology and the impact on the treatment, in the selection of donors for HSCT

-IPSS-R and IPSS-M for MDS clinical practice, mainly for HSCT

-Comparative studies of survival for pediatric and adult patients with MDS and AML treated with HSCT

-New findings on the epigenetic mechanisms involved in the development and evolution of MDS and AML comparing the data in pediatric and adult patients

-Models of disease evolution with the association of cytogenetic, genomic and epigenomic abnormalities at the level of hematopoietic cells and BM microenvironment for MDS and AML

Please note: manuscripts consisting solely of bioinformatics or computational analysis of public genomic or transcriptomic databases which are not accompanied by validation (independent cohort or biological validation in vitro or in vivo) are out of scope for this section and will not be accepted as part of this Research Topic.

Keywords: chromosomal abnormalities, genetic variants, chromatin modifiers, prognostic biomarkers, myelodysplastic neoplasm and acute myeloid leukemia


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