Prognostic Markers of Myelodysplastic Syndromes

Abstract

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.

Antibiotic-Resistant Pyrexia of Unknown Origin: An Unusual Presentation of Myelodysplastic Syndrome

“…Towards the prognosis evaluations, blast cell percentage in bone marrow gives significant predictions for the disease course [ 9 ], where the risk of conversion to AML is directly proportional to the number of blast cells in the marrow and >20 % blast cells are categorized as AML [ 10 ]. Our patient had 13% of blast cells in his marrow, ruling out the transition of MDS to AML.…”

The miRNA Profile in Non-Hodgkin’s Lymphoma Patients with Secondary Myelodysplasia

“…Molecular genetic markers gradually become more and more popular in describing MDS and allow MDS subtypes to be discriminated from each other. MDS is accompanied by genetic and epigenetic changes, including aberrant expression of miRNAs [13]. Nevertheless, from a fundamental point of view, further research is needed to understand the complex regulatory mechanisms between miRNAs and their target genes in MDS.…”

MicroRNAs in the Myelodysplastic Syndrome

“…did their best to present as fully as possible the data obtained from the studies of correlations between miRNA expression levels and MDS-specific karyotypes [ 85 ]. Unbalanced chromosomal abnormalities are characteristic of MDS, and the most common are del(5q), monosomy 7 or del(7q), trisomy 8 and del(20q) [ 88 ]. Alkhatabi et al .…”

“…Mutations are an integral part of the genetic changes leading to MDS; in particular, mutations to the SF3B1 , SRSF2, and U2AF1 genes involved in splicing are frequent in this disease [ 88 ]. It has been shown that the expression levels of let-7, miRNA-423, and miRNA-103a are decreased in MDS samples with mutations to these genes when compared with wild-type samples, suggesting the presence of complex molecular genetic cascades in MDS [ 93 ].…”

“…determined that the expression level of miRNA-595 was lower in high-risk MDS; however, they emphasized that the data obtained required further research to involve a larger cohort of patients. In addition, this miRNA directly targeted the RPL27A gene and its downregulation disrupted erythropoiesis [ 88 ]. As was noted, miRNA-125a also contributed to impaired erythropoiesis, its expression was increased in MDS and negatively correlated with the overall survival rate of patients [ 103 ].…”