Myelodysplastic syndromes: Biological and therapeutic consequences of the evolving molecular aberrations landscape.

Abstract

Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders with heterogeneous presentation, ranging from indolent disease courses to aggressive diseases similar to acute myeloid leukemia (AML). Approximately 90% of MDS patients harbor recurrent mutations , which - with the exception of mutated SF3B1 -have not (yet) been included into the diagnostic criteria or risk stratification for MDS. Accumulating evidence suggests their utility for diagnostic workup, treatment indication and prognosis. Subsequently, in patients with unexplained cytopenia or dysplasia identification of these mutations may lead to earlier diagnosis. The acquisition and expansion of additional driver mutations usually antecedes further disease progression to higher risk MDS or secondary AML and thus, can be clinically helpful to detect individuals that may benefit from aggressive treatment approaches. Here, we review our current understanding of somatic gene mutations, gene expression patterns and flow cytometry regarding their relevance for disease evolution from pre-neoplastic states to MDS and potentially AML.

• Authors: Sebastian Schwind, Madlen Jentzsch, Anne Sophie Kubasch, Klaus H Metzeler, Uwe Platzbecker
• Journal: Neoplasia (New York, N.Y.) (Neoplasia) Vol. 23 Issue 11 Pg. 1101-1109 (Nov 2021) ISSN: 1476-5586 [Electronic] United States
• PMID: 34601234 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2021. Published by Elsevier Inc.

Chemical References

• Biomarkers, Tumor

Topics

• Biomarkers, Tumor (genetics)
• Disease Progression
• Humans
• Mutation
• Myelodysplastic Syndromes (genetics, pathology, therapy)
• Prognosis
• Transcriptome