Myelodysplastic syndromes (MDS) are hematopoietic stem cell neoplasms characterized by bone marrow failure with a propensity to develop into acute myeloid leukemia (AML). Recent advances in genome-wide analyses have enabled identification of most somatic gene mutations responsible for MDS, and multiplex gene-panel testing for hematological malignancies will be available soon. Thus, identification of genetic abnormalities is now enabling precise diagnosis and risk-stratification of MDS. Recently, two diagnostic classification systems for MDS have been published as updates to the previous WHO classification of myeloid tumors. The IPSS-M has also been proposed as a new risk-stratification system based on genetic abnormalities and known prognostic factors. Following identification of pathological processes in MDS, therapeutic agents that can alter the course of disease, including azacitidine and lenalidomide, were approved and became available in Japan. Several novel therapeutic agents are under development as well. This paper will discuss updated diagnostic and risk-stratification systems, as well as standard treatment strategies for MDS.
Keyphrases
- acute myeloid leukemia
- genome wide
- bone marrow
- prognostic factors
- copy number
- hematopoietic stem cell
- machine learning
- dna methylation
- deep learning
- allogeneic hematopoietic stem cell transplantation
- mesenchymal stem cells
- bioinformatics analysis
- randomized controlled trial
- newly diagnosed
- transcription factor
- high dose