ArticleEMBO molecular medicine2009
Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene.
Article in EMBO molecular medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers, 1 of them a synthesis that pooled it.
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Who cites it
80 citing papers in PubMed, 1 synthesis or guideline pooled it, 129 citations in OpenAlex.
- Gene signature associated with benign neurofibroma transformation to malignant peripheral nerve sheath tumors.PloS one · 2017Pooled it
- MEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors.The Journal of clinical investigation · 2013Trial
- Induced pluripotent stem cell-derived models of malignant nerve sheath tumor progression mimic glial to neuro-mesenchymal transition and uncover therapeutic opportunities.Nature communications · 2026Article
- FAP expression as a marker of malignant transformation enabling in vivo characterization in peripheral nerve sheath tumors: a multimodal and translational study.Acta neuropathologica · 2026Article
- Loss of EPB41L3: a common molecular link in the tumorigenesis of neurofibromatosis types 1 and 2.Frontiers in oncology · 2026Article
- Glial-to-mesenchymal transition of tumor Schwann cells drives the genetic burden in MPNSTs from neurofibromatosis type 1 mouse model.Science advances · 2025Article
- New models for MPNST: establishment and comprehensive characterization of two tumor cell lines.Cancer cell international · 2025Article
- Discoidin domain receptor inhibitor DDR1-IN-1 induces autophagy and necroptotic cell death in malignant peripheral nerve sheath tumor.Cell death discovery · 2025Article
- SOX9 Promotes Collagen VI Secretion by Upregulating PCOLCE in Neurofibroma.Molecular neurobiology · 2024Article
- Expanding a precision medicine platform for malignant peripheral nerve sheath tumors: New patient-derived orthotopic xenografts, cell lines and tumor entities.Molecular oncology · 2024Article
- FOXM1 promotes neurofibromatosis type 1-associated malignant peripheral nerve sheath tumor progression in a NUF2-dependent manner.Cancer gene therapy · 2023Article
- Runx1/3-driven adaptive endoplasmic reticulum stress pathways contribute to neurofibromagenesis.Oncogene · 2023Article
- Article
- Knockdown of NCOR2 Inhibits Cell Proliferation via BDNF/TrkB/ERK in NF1-Derived MPNSTs.Cancers · 2022Article
- Neurofibroma Development in Neurofibromatosis Type 1: Insights from Cellular Origin and Schwann Cell Lineage Development.Cancers · 2022Review
- Pioneer factors in development and cancer.iScience · 2021Review
- Insights into the Pathogenesis of NF1-Associated Neoplasms.JID innovations : skin science from molecules to population health · 2021Article
- Enhancer reprogramming in PRC2-deficient malignant peripheral nerve sheath tumors induces a targetable de-differentiated state.Acta neuropathologica · 2021Article
- The Role of ER Stress-Related Phenomena in the Biology of Malignant Peripheral Nerve Sheath Tumors.International journal of molecular sciences · 2021Review
- Article
20 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 10 institutions in 5 countries.
Funding
Abstract
Understanding the biological pathways critical for common neurofibromatosis type 1 (NF1) peripheral nerve tumours is essential, as there is a lack of tumour biomarkers, prognostic factors and therapeutics. We used gene expression profiling to define transcriptional changes between primary normal Schwann cells (n = 10), NF1-derived primary benign neurofibroma Schwann cells (NFSCs) (n = 22), malignant peripheral nerve sheath tumour (MPNST) cell lines (n = 13), benign neurofibromas (NF) (n = 26) and MPNST (n = 6). Dermal and plexiform NFs were indistinguishable. A prominent theme in the analysis was aberrant differentiation. NFs repressed gene programs normally active in Schwann cell precursors and immature Schwann cells. MPNST signatures strongly differed; genes up-regulated in sarcomas were significantly enriched for genes activated in neural crest cells. We validated the differential expression of 82 genes including the neural crest transcription factor SOX9 and SOX9 predicted targets. SOX9 immunoreactivity was robust in NF and MPSNT tissue sections and targeting SOX9 - strongly expressed in NF1-related tumours - caused MPNST cell death. SOX9 is a biomarker of NF and MPNST, and possibly a therapeutic target in NF1.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.