Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.7.49 (reverse transcriptase)
 31,746 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

MicroRNA-210 (miR-210) levels are elevated in many tumor types, are frequently associated with hypoxia induction, and are correlated with poor prognosis in many solid tumors. miR-210 regulates cell growth, angiogenesis, invasion, and apoptosis of many human tumors. In this study, we investigated the clinical significance of miR-210 expression in common brain tumors, or human gliomas. Glioma samples and normal brain tissues were analyzed using real-time quantitative reverse transcriptase polymerase chain reaction to characterize the expression patterns of miR-210. The association of miR-210 expression with clinicopathological parameters and prognosis of glioma patients was statistically analyzed. Gliomas were further divided by grade: pilocytic astrocytoma (World Health Organization [WHO] grade I), diffuse astrocytomas (WHO grade II), anaplastic astrocytomas (WHO grade III), and glioblastoma (WHO grade IV). There was a significantly higher expression level of miR-210 amongst the glioma tissues as compared with normal brain tissues (p<0.001). Increased expression of miR-210 in glioma tissues was significantly associated with advanced pathological grade (p<0.001) and low Karnofsky Performance Score (p=0.014). In addition, increased miR-210 levels were also associated with poor progression-free survival (PFS) and overall survival (OS) rates when compared to the normal control (both p<0.001), as calculated by Kaplan-Meier survival and Cox regression analyses. Furthermore, subgroup analyses showed that miR-210 expression was significantly associated with poor PFS and OS of glioma patients with high pathological grades (III-IV: both p<0.001). miR-210 is highly expressed in human gliomas and confers a poor prognosis in glioma patients. These findings may bring the development of novel, tailored pharmacological therapies for glioma patients.
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PMID:MicroRNA-210 overexpression predicts poorer prognosis in glioma patients. 2438 15

BCOR has been recognized as a recurrently altered gene in a subset of pediatric tumors of the central nervous system (CNS). Here, we describe a novel BCOR-CREBBP fusion event in a case of pediatric infiltrating astrocytoma and further probe the frequency of related fusion events in CNS tumors. We analyzed biopsy samples taken from a 15-year-old male with an aggressive, unresectable and multifocal infiltrating astrocytoma. We performed RNA sequencing (RNA-seq) and targeted DNA sequencing. In the index case, the fused BCOR-CREBBP transcript comprises exons 1-4 of BCOR and exon 31 of CREBBP. The fused gene thus retains the Bcl6 interaction domain of BCOR while eliminating the domain that has been shown to interact with the polycomb group protein PCGF1. The fusion event was validated by FISH and reverse transcriptase PCR. An additional set of 177 pediatric and adult primary CNS tumors were assessed via FISH for BCOR break apart events, all of which were negative. An additional 509 adult lower grade infiltrating gliomas from the publicly available TCGA dataset were screened for BCOR or CREBBP fusions. In this set, one case was found to harbor a CREBBP-GOLGA6L2 fusion and one case a CREBBP-SRRM2 fusion. In a third patient, both BCOR-L3MBTL2 and EP300-BCOR fusions were seen. Of particular interest to this study, EP300 is a paralog of CREBBP and the breakpoint seen involves a similar region of the gene to that of the index case; however, the resultant transcript is predicted to be completely distinct. While this gene fusion may play an oncogenic role through the loss of tumor suppressor functions of BCOR and CREBBP, further screening over larger cohorts and functional validation is needed to determine the degree to which this or similar fusions are recurrent and to elucidate their oncogenic potential.
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PMID:Fusions involving BCOR and CREBBP are rare events in infiltrating glioma. 3249 17


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