Unraveling the molecular pathophysiology of myelodysplastic syndromes.
paper
Cited
Public
Unavailable
- Authors
- Bejar, Rafael; Levine, Ross; Ebert, Benjamin L
- Year
- 2011
- Journal
- Journal of clinical oncology : official journal of the American Society of Clinical Oncology
- PMID
- 21220588
- DOI
- 10.1200/JCO.2010.31.1175
- PMCID
- PMC3969457
Somatically acquired genetic abnormalities lead to the salient features that define myelodysplastic syndromes (MDS): clonal hematopoiesis, aberrant differentiation, peripheral cytopenias, and risk of progression to acute myeloid leukemia. Although specific karyotypic abnormalities have been linked to MDS for decades, more recent findings have demonstrated the importance of mutations within individual genes, focal alterations that are not apparent by standard cytogenetics, and aberrant epigenetic regulation of gene expression. The spectrum of genetic abnormalities in MDS implicates a wide range of molecular mechanisms in the pathogenesis of these disorders, including activation of tyrosine kinase signaling, genomic instability, impaired differentiation, altered ribosome function, and changes in the bone marrow microenvironment. Specific alterations present in individual patients with MDS may explain much of the heterogeneity in clinical phenotype associated with this disease and can predict prognosis and response to therapy. Elucidation of the full complement of genetic causes of MDS promises profound insight into the biology of the disease, improved classification and prognostic scoring schemes, and the potential for novel targeted therapies with molecular predictors of response.
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| Title | Year | PMID |
|---|---|---|
| Detectable clonal mosaicism from birth to old age and its relationship to cancer. | 2012 | 22561516 |
External
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| Historical perspectives on myelodysplastic syndromes. | Steensma DP | β | 2012 | β |
| Molecular and genetic features of myelodysplastic syndromes. | Greenberg PL | β | 2012 | β |
| Myelodysplastic syndromes: 2012 update on diagnosis, risk-stratification, and management. | Garcia-Manero G | β | 2012 | β |
| Myelodysplastic syndromes: revisiting the role of the bone marrow microenvironment in disease pathogenesis. | Raaijmakers MH | β | 2012 | β |
| Myelodysplastic syndromes: the challenge of developing clinical guidelines and supportive care strategies for a rare disease. | Kurtin SE | β | 2012 | β |
| Myeloid malignancies: mutations, models and management. | Murati A et al. | β | 2012 | β |
| Myeloid toxicity of cancer treatment. | Kurtin S | β | 2012 | β |
| Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. | Colombo EA et al. | β | 2012 | β |
| Patient and family resources for living with myelodysplastic syndromes. | Kurtin SE et al. | β | 2012 | β |
| Prognostic irrelevance of ring sideroblast percentage in World Health Organization-defined myelodysplastic syndromes without excess blasts. | Patnaik MM et al. | β | 2012 | β |
| Rapid screening of ASXL1, IDH1, IDH2, and c-CBL mutations in de novo acute myeloid leukemia by high-resolution melting. | IbÑñez M et al. | β | 2012 | β |
| SDF-1/CXCR4 signal is involved in decreased expression of p57kip2 in de novo MDS patients. | Zhao Y et al. | β | 2012 | β |
| Splicing factor mutations in myelodysplasia. | Ogawa S | β | 2012 | β |
| Targeting oncogenic Ras signaling in hematologic malignancies. | Ward AF et al. | β | 2012 | β |
| The clinical implication of SRSF2 mutation in patients with myelodysplastic syndrome and its stability during disease evolution. | Wu SJ et al. | β | 2012 | β |
| Transformation of a chronic myeloproliferative neoplasm to acute myelogenous leukemia: does anything work? | Kundranda MN et al. | β | 2012 | β |
| Treatment of myelodysplastic syndromes: practical tools for effective management. | Kurtin SE et al. | β | 2012 | β |
| Clinical effect of point mutations in myelodysplastic syndromes. | Bejar R et al. | β | 2011 | β |
| Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. | Malcovati L et al. | β | 2011 | β |
| Disease progression mechanism in myelodysplastic syndromes: insight into the role of the microenvironment. | Ishibashi M et al. | β | 2011 | β |
| Emerging roles of TET proteins and 5-hydroxymethylcytosines in active DNA demethylation and beyond. | Guo JU et al. | β | 2011 | β |
| Familial myelodysplastic syndromes: a review of the literature. | Liew E et al. | β | 2011 | β |
| Flow cytometry immunophenotyping for the evaluation of bone marrow dysplasia. | Della Porta MG et al. | β | 2011 | β |
| Frequent pathway mutations of splicing machinery in myelodysplasia. | Yoshida K et al. | β | 2011 | β |
| Genetics of myelodysplastic syndromes: new insights. | Graubert T et al. | β | 2011 | β |
| Histone methylation in myelodysplastic syndromes. | Wei Y et al. | β | 2011 | β |
| Integrating care for patients with lower risk myelodysplastic syndrome. | Garcia-Manero G | β | 2011 | β |
| Myelodysplastic syndromes. | Odenike O et al. | β | 2011 | β |
| Myelodysplastic syndromes and bone marrow microenvironment. | Della Porta MG | β | 2011 | β |
| Nuclear phosphoinositides and their roles in cell biology and disease. | Martelli AM et al. | β | 2011 | β |
| Point mutations in myelodysplastic syndromes. | Damm F et al. | β | 2011 | β |
| The dawn of the molecular era of the myelodysplastic syndromes. | Odenike O et al. | β | 2011 | β |
| Treatment of higher-risk myelodysplastic syndrome. | Garcia-Manero G | β | 2011 | β |