Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Refractory thrombocytopenia (RTC) is an unusual subtype of myelodysplastic syndrome (MDS) that initially presents as chronic pure thrombocytopenia. Because of the lack of distinguishable dysplasia, RTC has often been misdiagnosed as idiopathic thrombocytopenic purpura. We describe the case of a patient with RTC and trisomy 8 for whom a bone marrow mononuclear cell (BMNC) gene expression profile was obtained by means of a complementary DNA microarray analysis. Compared with the healthy control subject, the RTC patient differentially expressed 105 genes, of which 88 were down-regulated and 17 were up-regulated. The expression pattern of 16 genes, including those for RNA helicase-related protein (RNAHP), heat shock 105kD (HSP105B), interferon-related developmental regulator 1 (IFRD1), cyclin C (CCNC), and DNA-damage-inducible transcript 3 (DDIT3), which are usually seen in BMNCs from typical MDS patients, was observed in this case. However, this RTC patient exhibited an expression pattern distinct from that of other MDS patients. We suggest that RTC be classified as a subtype of MDS on the basis of its characteristic clinical-hematologic features and specific molecular basis.
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PMID:Refractory thrombocytopenia, an unusual myelodysplastic syndrome with an initial presentation mimicking idiopathic thrombocytopenic purpura. 1576 83

CCAAT/enhancer binding proteins (C/EBPs) are a family of transcription factors that have been implicated in diverse cellular functions such as cellular differentiation and proliferation, and inflammatory processes. C/EBPzeta, also known as GADD153, CHOP10, and DDIT3 has been found associated with the development of myxoid liposarcoma and the progression of melanoma. To investigate the correlation of C/EBPzeta transcript levels with the development of leukemia, samples from 187 patients with myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), and chronic myeloid leukemia (CML) were examined for C/EBPzeta mRNA using real-time quantitative PCR (RQ-PCR). RQ-PCR analysis demonstrated the median levels of C/EBPzeta were significantly decreased in MDS, AML, and CML patients compared with normal controls (1.40, 0.96, 2.60 versus 14.69, P<0.0001). Significant differences were also observed between patients with CML and with AML or MDS. These results suggest that the insufficient dosage of C/EBPzeta might be involved in the development of leukemia.
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PMID:Decreased expression of CCAAT/enhancer binding protein zeta (C/EBPzeta) in patients with different myeloid diseases. 1600 64

The gene expression pattern of bone marrow mononuclear cells (BMNCs) from 10 patients with myelodysplastic syndrome (MDS) was studied by two-color cDNA microarray techniques. To confirm the microarray results, a semiquantitative RT-PCR was performed to analyze gene expression in fifty additional MDS patients. Ninety-five genes were shown to be abnormally expressed in at least five MDS patients compared to normal controls, involving cell growth and differentiation regulation, cell cycle control, signaling and redox; such as thrombospondin 1, phosphatase and tensin homolog, MAD, DNA-damage-inducible transcript 3 (DDIT3), ets variant gene 1 (ETV1), and G1 to S phase transition 1. CD36 was also revealed up-regulated in 4 cases. MDS patients in early and advanced stages could be clustered into two distinct groups by hierarchical clustering, wherein a case with isolated thrombocytopenia and other RA patients were clustered into two subgroups. Consistent expression patterns of 3/5 (60%) genes were confirmed by semiquantitative RT-PCR. Further analysis showed the different transcript levels of RNAHP, DDIT3 in patients with MDS in different stages, AML, and normal controls. Meanwhile, the different significance of RNAHP and ETV1 expression was revealed between RA and untypical anaplastic anemia, iron deficiency anemia, and megaloblastic anemia patients. We propose that the technology of microarray may reveal the intrinsic molecular features and the expression levels of RNAHP, DDIT3, and ETV1 may provide useful markers for the diagnosis of MDS.
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PMID:Gene expression profiling of the bone marrow mononuclear cells from patients with myelodysplastic syndrome. 1621 Dec 84

The epigenetic changes of tumor suppressor genes are now recognized as an alternative mechanism contributing to the development of myelodysplastic syndrome (MDS). The expression of DNA-damage-inducible transcript 3 (DDIT3) gene has been found down-regulated in myeloid malignancies including MDS. In this study, we performed methylation-specific PCR (MSP) to investigate the methylation status of the CpG island of DDIT3 promoter region in MDS. Aberrant methylation of DDIT3 was detected in 31.8% (21/66) of the cases analyzed. No correlation was found between DDIT3 promoter methylation and clinical parameters and MDS subtypes. Although the estimated 50% survival time of the methylated DDIT3 group was shorter than that of unmethylated group (12.0 months vs. 23.0 months), the difference was not statistically significant (P=0.137). These findings suggest that the hypermethylation of DDIT3 promoter might be one of early events in the development of MDS.
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PMID:Aberrant methylation of DNA-damage-inducible transcript 3 promoter is a common event in patients with myelodysplastic syndrome. 2011 99