Expressed fusion transcripts in rare bone tumours
Ontology highlight
ABSTRACT:
PROVIDER: EGAS00001000763 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:mRNA-Seq on total RNA from primary osteoblastomas and phosphaturic mesenchymal tumours, focussing on fusion transcript expression
2015-01-27 | E-ERAD-276 | biostudies-arrayexpress
Project description:mRNA-Seq on total RNA from primary osteoblastomas and phosphaturic mesenchymal tumours, focussing on fusion transcript expression
| EGAD00001000990 | EGA
Project description:BACKGROUND: Epstein-Barr Virus (EBV) associated lymphoproliferative disorders are encountered in immunodeficiency states. Amongst these, primary CNS lymphoma in HIV/AIDS patients is relatively rare and represents a therapeutic challenge. MATERIALS AND METHODS: This report was generated from patient's medical records throughout hospitalizations and outpatient visits. RESULTS: A 20-year-old female with congenitally acquired HIV and poor medication compliance presented with severe headaches and mild cranial nerve deficits. HIV viral load at presentation was 89,976/ml with CD4 count of 4/uL. Head MRI revealed 3-cm thick-walled ring-enhancing lesion in right basal ganglia. Serum titers for toxoplasmosis were negative. EBV DNA was detected by PCR in CSF without peripheral viremia. Imaging with thallium scan and MRI findings in combination with EBV PCR positive CSF allowed for the presumptive diagnosis of EBV-associated primary CNS lymphoma. Highly active anti-retroviral therapy (HAART) was reinitiated. Karnofsky score was 90%, thus chemotherapy was offered to optimize chance of cure. Agents of choice were high-dose Methotrexate for CNS penetration/anti-lymphoma activity and Rituximab. Within the next 5 months she received 8 cycles of alternating Methotrexate (4000 mg/m2/dose on Day 1) and Rituximab (375 mg/m2/dose on Day 8). Supportive care included leucovorin rescue and urine alkalinization. Therapy was tolerated well without sepsis episodes during neutropenia. Her headaches and neurological deficits resolved after the first cycle of therapy. Serial imaging demonstrated substantial and continuous regression of the lymphoma lesion. No adjunctive radiotherapy was administered. Patient remains in remission 18 months after diagnosis, despite fluctuating viral loads and CD4 counts due to the poor HAART compliance. No chronic hypogammaglobulinemia resulted from therapy to date. CONCLUSION: Given the observed results and acceptable toxicity profile, methotrexate and rituximab combination may be effective and should be considered in addition to HAART for treating EBV-associated CNS lymphoma in young patients with minimal comorbidities and underlying HIV/AIDS. INTRODUCTION: Pediatric pineal parenchymal tumors of intermediate differentiation (PPTID, WHO grade II or III) are extremely uncommon. Appropriate therapy has not been defined. We present three new cases of pediatric PPTID and 8 cases in patients under age 45 identified in a literature review. METHODS: This study utilized the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) (http://www.prisma-statement.org.). RESULTS: We diagnosed two children (female age 5 y, male age 14 y) with PPTID in the pineal region and negative work-up for metastases. Both underwent gross total resection (GTR). Pathologic evaluation was consistent with PPTID grade II in each. Both were treated with local radiation therapy via protons to 50.4 CGE. The first patient (case 1) is now 4 years since diagnosis with no evidence of disease (NED) and the second (case 2) is 8 months after surgery and NED. Our third case (male age 15 y) was diagnosed with PPTID grade III with drop metastases in the thecal sac (case 3). He was treated with craniospinal and boost radiation and multiagent chemotherapy but relapsed with leptomeningeal disease near the conus 2 years after diagnosis. Our literature review identified 8 cases of PPTID in patients under age 45, described in Table 1 (cases 4-11). There were broad treatment strategies from GTR only to craniospinal radiation and multiagent chemotherapy. While the therapy varied, the outcome for those with non-metastatic grade II tumors was good. Grade III tumors were associated with metastatic disease and a worse outcome. DISCUSSION: With very few cases, definitive recommendations for therapy are impossible. For PPTID grade II, GTR alone may be sufficient. PPTID grade III should be considered for more aggressive therapy.
| S-EPMC4046297 | biostudies-literature
Project description:Background: MLL (KMT2A)-EB1 (MAPRE1) fusion was identified in a patient with de novo pro-B acute lymphoblastic leukemia. To investigate the leukemogenesis of MLL-EB1 fusion, a retroviral transduction of MLL-EB1 to murine bone marrow cells was performed. A frequent MLL fusion, MLL-AF10(OM-LZ), was used as a positive control. Results: Two MLL-EB1 immortalized cell lines (ME1 and ME2G), and a MLL-AF10(OM-LZ) immortalized cell line (12G) were generated. Microarray results showed that many genes including Evi1 and Ets1 were differentially expressed in ME1/ME2G and 12G cell lines.
2017-06-02 | GSE82156 | GEO
Project description:SnowShoes-FTD, a fusion transcript discovery tool, was used to identify fusions in breast cancer cell lines using the RNA-Seq data
2013-11-22 | GSE52643 | GEO
Project description:miRNA-sequencing of grapefruit-derived extracellular vesicles and fusion nanovesicles derived from grapefruit-derived extracellular vesicles and gingival mesenchymal stem cell-derived vesicles. We then performed gene expression profiling analysis to explore the miRNAs derived from grapefruit-derived extracellular vesicles, and the retention rate of miRNAs after membrane fusion
2023-10-26 | GSE223353 | GEO
Project description:SnowShoes-FTD, a fusion transcript discovery tool, was used to identify fusions in breast cancer cell lines using the RNA-Seq data Total RNA extracted from cell lines. The total RNA was used for construction of RNA-Seq library for RNA-Sequencing.
2013-11-22 | E-GEOD-52643 | biostudies-arrayexpress
Project description:This data set contains single-cell RNA sequencing data of mature immune cells, hematopoietic and immune progenitors, mesenchymal cells (CAR cells, fibroblasts, osteoblasts, chondrocytes, putative mesenchymal stem cells), endothelia, smooth muscle, and Schwann cells.
2019-08-08 | GSE122465 | GEO