RNA seq of MPNST tumour samples
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ABSTRACT:
PROVIDER: EGAS00001004528 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:WES from 51 cases initially diagnosed as Malignant Nerve Sheath Tumours (MPNST) and RNA sequencing data from 10 MPNST cases. Find more information in article: Lyskjær et al, 2020, J Pathol, "H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours".
| EGAD00001006253 | EGA
Project description:The diagnosis of Malignant peripheral nerve sheath tumors (MPNSTs) can be challenging, but is aided by their characteristic DNA methylation profile (DMP). An MPNST-like group, characterized by retained H3K27me3 expression, was recently recognized. To evaluate the diagnostic usefulness of DMP in pediatric/juvenile MPNSTs, we selected pediatric/juvenile malignancies from the Bambino Gesù Children's Hospital DMP database. DMP revealed unexpected molecular heterogeneity in histologically homogenous MPNSTs/Atypical neurofibromas, while samples with MPNST-like DMP manifested histological diversity. In conclusion, DMP is useful in diagnosing MPNST, discriminating morphologic mimics classified as MPNST in premolecular era, and investigating the MPNST-like ‘hybrid’ group in pediatrics.
2024-01-29 | GSE246644 | GEO
Project description:Investigate the genomic landscape of MPNST tumours. Cases where a diagnosis of MPNST had been considered in the differential diagnosis with a variable degree of confidence was included. The diagnosis of MPNST was excluded in 12/51 (49 cases had WES data) of the sequenced tumours following review of the pathology, new IHC, molecular tests and clinical information. Article: Lyskjær et al, 2020, J Pathol, "H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours".
| EGAS00001004527 | EGA
Project description:PRC2-isogenic human malignant peripheral nerve sheath tumor (MPNST) M3 cells were generated through CRISPR/Cas9-mediated knockout of the PRC2 core component, SUZ12. PRC2 loss leads to global loss of H3K27me3, which causes H3K27ac redistribution and also affect other histone modification, e.g., H3K36me2/3.
2022-08-17 | GSE202555 | GEO
Project description:Malignant peripheral nerve sheath tumor (MPNST) is a rare sarcoma that lacks effective therapeutic strategies. By characterizing recurrent gene copy number aberrations, we gain insight into the most altered pathways with the purpose of scanning possible therapeutic targets. We conducted a microarray-based comparative genomic hybridization profiling of two cohorts of primary MPNST tissue samples including 25 patients treated at The University of Texas MD Anderson Cancer Center and 26 patients from Tianjin Cancer Hospital. All samples had at least 90% tumor content. Commercially available normal genomic DNAs were used as control.
2011-11-26 | E-GEOD-33881 | biostudies-arrayexpress
Project description:Malignant peripheral nerve sheath tumor (MPNST) is a rare sarcoma that lacks effective therapeutic strategies. By characterizing recurrent gene copy number aberrations, we gain insight into the most altered pathways with the purpose of scanning possible therapeutic targets.
2011-11-26 | GSE33881 | GEO
Project description:Plexiform neurofibromas (PN) are benign nerve sheath Schwann cell tumors, common in patients with neurofibromatosis type 1 (NF1), that are characterized by biallelic mutations in the NF1 tumor suppressor gene. Atypical neurofibromas (ANF) show additional frequent loss of CDKN2A/Ink4a/Arf and may be precursor lesions of aggressive malignant peripheral nerve sheath tumors (MPNST). We combined loss of Nf1 in developing
2020-12-23 | GSE148249 | GEO
Project description:Malignant peripheral nerve sheath tumors (MPNST) are aggressive sarcomas and the leading cause of mortality in neurofibromatosis type 1 (NF1), with limited systemic therapies. Malignant progression can reactivate developmental precursor programs that are largely absent from normal nerve and benign tumors, creating tumor-selective vulnerabilities. Zinc finger protein 423 (ZNF423; also known as OAZ/ROAZ) is a developmentally regulated transcription factor that delays olfactory precursor differentiation and has been implicated in Bcell malignancy. Here, we asked whether ZNF423 is reactivated and functionally required in NF1-associated MPNST. In genetically defined models, Nf1 loss reduced Zfp423 in a benign tumor cell-of-origin context, whereas combined Nf1 and Cdkn2a loss induced marked Zfp423 upregulation during transformation. ZNF423 depletion impaired DNA synthesis and proliferation, induced DNA damage signaling, and activated the integrated stress response (ISR), increasing sensitivity to cytotoxic agents. Sustained shRNA-mediated ZNF423 suppression compromised tumor initiation in vivo, with eventual outgrowth associated with restoration of ZNF423 expression. ZNF423 is developmentally restricted in the peripheral nerve lineage yet elevated in MPNST, and single-cell analyses of patient nerve sheath tumors localized expression to malignant cells rather than SOX10-positive benign tumor cells. These data identify a potential ZNF423 dependency in a subset of NF1-MPNST and nominate downstream stress and genome maintenance pathways as therapeutic vulnerabilities.
2026-09-11 | GSE320236 | GEO
Project description:Malignant peripheral nerve sheath tumors (MPNST) are aggressive sarcomas and the leading cause of mortality in neurofibromatosis type 1 (NF1), with limited systemic therapies. Malignant progression can reactivate developmental precursor programs that are largely absent from normal nerve and benign tumors, creating tumor-selective vulnerabilities. Zinc finger protein 423 (ZNF423; also known as OAZ/ROAZ) is a developmentally regulated transcription factor that delays olfactory precursor differentiation and has been implicated in Bcell malignancy. Here, we asked whether ZNF423 is reactivated and functionally required in NF1-associated MPNST. In genetically defined models, Nf1 loss reduced Zfp423 in a benign tumor cell-of-origin context, whereas combined Nf1 and Cdkn2a loss induced marked Zfp423 upregulation during transformation. ZNF423 depletion impaired DNA synthesis and proliferation, induced DNA damage signaling, and activated the integrated stress response (ISR), increasing sensitivity to cytotoxic agents. Sustained shRNA-mediated ZNF423 suppression compromised tumor initiation in vivo, with eventual outgrowth associated with restoration of ZNF423 expression. ZNF423 is developmentally restricted in the peripheral nerve lineage yet elevated in MPNST, and single-cell analyses of patient nerve sheath tumors localized expression to malignant cells rather than SOX10-positive benign tumor cells. These data identify a potential ZNF423 dependency in a subset of NF1-MPNST and nominate downstream stress and genome maintenance pathways as therapeutic vulnerabilities.
2026-09-11 | GSE320235 | GEO
Project description:Malignant peripheral nerve sheath tumors (MPNST) are aggressive sarcomas and the leading cause of mortality in neurofibromatosis type 1 (NF1), with limited systemic therapies. Malignant progression can reactivate developmental precursor programs that are largely absent from normal nerve and benign tumors, creating tumor-selective vulnerabilities. Zinc finger protein 423 (ZNF423; also known as OAZ/ROAZ) is a developmentally regulated transcription factor that delays olfactory precursor differentiation and has been implicated in Bcell malignancy. Here, we asked whether ZNF423 is reactivated and functionally required in NF1-associated MPNST. In genetically defined models, Nf1 loss reduced Zfp423 in a benign tumor cell-of-origin context, whereas combined Nf1 and Cdkn2a loss induced marked Zfp423 upregulation during transformation. ZNF423 depletion impaired DNA synthesis and proliferation, induced DNA damage signaling, and activated the integrated stress response (ISR), increasing sensitivity to cytotoxic agents. Sustained shRNA-mediated ZNF423 suppression compromised tumor initiation in vivo, with eventual outgrowth associated with restoration of ZNF423 expression. ZNF423 is developmentally restricted in the peripheral nerve lineage yet elevated in MPNST, and single-cell analyses of patient nerve sheath tumors localized expression to malignant cells rather than SOX10-positive benign tumor cells. These data identify a potential ZNF423 dependency in a subset of NF1-MPNST and nominate downstream stress and genome maintenance pathways as therapeutic vulnerabilities.
2026-09-11 | GSE320231 | GEO