Laboratory of Gene Engineering, Institute of Cytology and Genetics, SB RAS, 630090 Novosibirsk, Russia
Sergei Evgenievich Titov
Department of the Structure and Function of Chromosomes, Laboratory of Molecular Genetics, Institute of Molecular and Cellular Biology, SB RAS, 630090 Novosibirsk, Russia
Igor Borisovich Kovynev
Department of Therapy, Hematology and Transfusiology, Novosibirsk State Medical University, 630091 Novosibirsk, Russia
Tatiana Ivanovna Pospelova
Department of Therapy, Hematology and Transfusiology, Novosibirsk State Medical University, 630091 Novosibirsk, Russia
Igor Fyodorovich Zhimulev
Department of the Structure and Function of Chromosomes, Laboratory of Molecular Genetics, Institute of Molecular and Cellular Biology, SB RAS, 630090 Novosibirsk, Russia
Myelodysplastic syndrome (MDS) is a clonal disease characterized by multilineage dysplasia, peripheral blood cytopenias, and a high risk of transformation to acute myeloid leukemia. In theory, from clonal hematopoiesis of indeterminate potential to hematologic malignancies, there is a complex interplay between genetic and epigenetic factors, including miRNA. In practice, karyotype analysis assigns patients to different prognostic groups, and mutations are often associated with a particular disease phenotype. Among myeloproliferative disorders, secondary MDS is a group of special entities with a typical spectrum of genetic mutations and cytogenetic rearrangements resembling those in de novo MDS. This overview analyzes the present prognostic systems of MDS and the most recent efforts in the search for genetic and epigenetic markers for the diagnosis and prognosis of MDS.
