The myelodysplastic syndrome (MDS) is an abnormal clonal proliferation disease resulting from disorder of hematopoietic stem cells/progenitor cells and is characterized by ineffective hematopoiesis and high risk of transforming into acute leukemia. The present experimental studies in gene, chromosome, cytokines and biochemical aspects may put the genetically models for clarifying the pathogenesis of MDS, help to early evaluation of disease prognosis and eventually develop the strategies of more effective prevention and treatment methods for MDS. In this article, the advances of chromosome, gene, cytokines and biochemical aspects in pathogenesis of MDS are summarized on basis of proceedings of ASH meeting in 2007 years.
Humans ; Myelodysplastic Syndromes ; genetics ; metabolism ; pathology

MicroRNA (miRNA), evolutionarily conserved, endogenous, small, noncoding RNA molecule of about 22 nucleotides in length, have been recently attributed a crucial role in numerous physiological and pathological processes including the regulation of cellular development, differentiation, proliferation, apoptosis and oncogenesis. Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic disorders characterized clinically and morphologically by ineffective hematopoiesis and increased risk of leukaemic transformation. The role of miRNA abnormal expression in pathogenesis and prognosis of MDS is reviewed in this article, including miRNA related with pathogenesis, miRNA related with prognosis of MDS and so on.
Hematopoiesis ; Humans ; MicroRNAs ; Myelodysplastic Syndromes ; genetics ; pathology

Adult ; Humans ; Male ; Myelodysplastic Syndromes ; complications ; pathology ; Pulmonary Alveolar Proteinosis ; etiology ; pathology

The myelodysplastic syndromes (MDS) are a group of heterogeneous hematological disorders and characterized by abnormalities of bone marrow myeloblasts in morphology and count, ineffective hematopoiesis, decrease of peripheral blood cells and high risk of transforming into acute myeloid leukemia. In this review, the morphological examination of bone marrow, bone marrow biopsy, karyotyping analysis of chromosome, and the significance of flow cytometric immunophenotyping for diagnosis and prognosis of MDS patients are discussed.
Bone Marrow ; pathology ; Humans ; Immunophenotyping ; Karyotyping ; Myelodysplastic Syndromes ; genetics ; immunology ; pathology

Myelodysplastic syndrome (MDS) is a clonal hematopoietic stem cell disorder characterized by ineffective hematopoiesis and a risk of transformation into acute leukemia. Approximately 30% of patients with MDS will progress and develop into acute myeloid leukemia (AML), especially in the patients with high-risk MDS, which can be named as secondary acute myeloid leukemia (sAML or MDS/AML). Generally, chemotherapy for sAML hardly has any efficacy. The only way to cure the patients with sAML is allogeneic hematopoietic stem cell transplantation, but unfortunately, only few patients are appropriate for transplantation. So it is important to study the mechanisms of progression of MDS to AML and to explore the potent drug for clinical use. This review summarizes the mechanism of MDS transformation into AML from chromosomal abnormality, aberrant DNA methylation and gene mutation, such as AML1/RUNX1 mutations, FLT3 mutations and PI-PLCβ1 mono-allelic deletion.
Chromosome Aberrations ; DNA Methylation ; Humans ; Leukemia, Myeloid, Acute ; genetics ; pathology ; Myelodysplastic Syndromes ; genetics ; pathology

Myelodysplastic syndromes (MDS) are a group of refractory anemias resulting from a clonal stem cell disorder often associated with cytogenetic abnormalities. There is increasing recognition of immunological abnormalities in patients with MDS, including defective B- and T-cell function, hyper- or hypogammaglobulinemia and monoclonal gammopathy. MDS have been associated with Sjogren's syndrome, polymyalgia rheumatica, relapsing polychondritis and systemic lupus erythematosus. Although there may be various rheumatologic features, including acute arthritis in MDS, chronic inflammatory arthritis is uncommonly combined. There have been a few reports that described cases of rheumatoid arthritis (RA) concurrent with MDS, but advanced rheumatoid arthritis with typical joint deformities has rarely been reported. We report a case of rheumatoid arthritis with atlantoaxial subluxation combined with refractory anemia in a 31-year-old woman.
Adult ; Arthritis, Rheumatoid/radiography ; Arthritis, Rheumatoid/pathology ; Arthritis, Rheumatoid/complications* ; Arthritis, Rheumatoid/blood ; Case Report ; Female ; Follow-Up Studies ; Human ; Myelodysplastic Syndromes/pathology ; Myelodysplastic Syndromes/complications* ; Myelodysplastic Syndromes/blood

Myelodysplastic syndromes are refered to as a group of diseases characterized by abnormal clonal proliferation of hematopoietic stem cells with pancytopenia and dysplasia. Recently, it has been documented that ringed sideroblasts are not only confined to the refractory anemia with ring sideroblast (RARS) subtype of MDS, but also contribute to numerous underlying MDS pathophysiological processes as a significant feature of dysplasia. This clonal heterogeneity suggested a pathogenetic role of mitochondrial DNA mutation. Many studies have shown that mitochondrial respiratory chain defects resulting from mutation of mitochondrial DNA may lead to multiple pathophysiologic changes, and may impact on the pathogeneses of MDS.
Apoptosis ; genetics ; DNA, Mitochondrial ; genetics ; Humans ; Mutation ; Myelodysplastic Syndromes ; genetics ; pathology ; physiopathology

Aged ; CD59 Antigens ; immunology ; Female ; Granulocytes ; immunology ; Humans ; Myelodysplastic Syndromes ; immunology ; pathology

OBJECTIVE: To explore the genetic and clinical characteristics of near-tetraploidy/tetraploidy karyotype (NT/T) in patients with myelodysplastic syndrome (MDS). METHODS: Cytogenetic findings of 1576 inpatients with primary MDS were retrospective analyzed, among which 9 were diagnosed with NT/T. Clinical data including gender, age, morphology, genetic feature and prognosis were analyzed. RESULTS: The prevalence of MDS patients with NT/T (NT/T-MDS) among all cases was 0.57%. Karyotyping analysis suggested that eight MDS patients had sole NT/T, while the remainder one had a complex karyotype. In addition to the typical morphology of MDS, NT/T-MDS had unique morphology including huge blast, double-nuclear cell and irregular nuclear membrane. One NT/T-MDS patient gave up therapy, and the remaining eight underwent the first course of treatment, albeit with poor prognosis. Only one patient had complete remission, one had partial remission, three had no remission; and three had converted to acute myeloid leukemia. CONCLUSION NT/T-MDS is rare and has unique morphology. Generally, NT/T-MDS patients have poor prognosis. However, NT/T cannot be simply classified as high-risk group, but with consideration whether they have affected particular chromosomal structures as well as other clinical data.
Humans ; Karyotype ; Leukemia, Myeloid, Acute/complications* ; Myelodysplastic Syndromes/pathology* ; Prognosis ; Retrospective Studies ; Tetraploidy

With the development of molecular biology techniques, the people's understanding of myelodysplastic syndromes (MDS) has greatly improved, a heterogeneous hematopoietic pre-malignant disorder of the stem cells. Gene mutations include RNA splicing, DNA methylation, chromosome modification, transcription factors, signal transduction kinases, RAS pathways, cohesion complexes, DNA repair, etc. Gene mutation is the determinant of diagnostic typing and therapeutic efficacy of MDS. The new concepts of CHIP and ICUS have aroused people's attention to the elderly patients with clonal hematopoiesis and non-clonal cytopenia but without MDS characteristics, who have the possibility of high-risk transformation to MDS and leukemia. In order to better understand the pathogenesis of MDS, the significance of gene mutations, CHIP and ICUS in the diagnosis and prognosis of MDS were reviewed in this paper.
Aged ; Humans ; DNA Methylation ; Mutation ; Myelodysplastic Syndromes/pathology* ; Prognosis ; Signal Transduction