ArticleMolecular medicine (Cambridge, Mass.)
Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients.
Article in Molecular medicine (Cambridge, Mass.). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25 citing papers in PubMed, 52 citations in OpenAlex.
- Extracranial Head and Neck Schwannomas: A Single Centre Retrospective Experience of 97 Cases.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2024Article
- Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.NPJ genomic medicine · 2024Article
- Ubiquitination of p21 by E3 ligase RNF135 promotes the proliferation of human glioblastoma cells.Oncology letters · 2024Article
- RNF135 Promotes Human Osteosarcoma Cell Growth and Inhibits Apoptosis by Upregulating the PI3K/AKT Pathway.Cancer reports (Hoboken, N.J.) · 2024Article
- Assessment of Ecotropic Viral Integration Site 2B (EVI2B) Gene in Juvenile Myelomonocytic Leukemia and Neurofibromatosis Type 1 NF1 Tumors.Biochemical genetics · 2024Article
- Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.Heliyon · 2024Article
- Integrative bioinformatics andOncology research · 2024Article
- Article
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.Cancers · 2021Article
- Identification of methylation-driven genes related to prognosis in clear-cell renal cell carcinoma.Journal of cellular physiology · 2020Article
- The Role of Co-Deleted Genes in Neurofibromatosis Type 1 Microdeletions: An Evolutive Approach.Genes · 2019Article
- Methylation-associated silencing ofTheranostics · 2018Article
- Emerging genotype-phenotype relationships in patients with large NF1 deletions.Human genetics · 2017Review
- Epigenome-wide association study of smoking and DNA methylation in non-small cell lung neoplasms.Oncotarget · 2016Article
- Extracranial Head and Neck Schwannomas: Our Experience.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2016Article
- RNF135, RING finger protein, promotes the proliferation of human glioblastoma cells in vivo and in vitro via the ERK pathway.Scientific reports · 2016Article
- Current treatment options for malignant peripheral nerve sheath tumors.Current treatment options in oncology · 2015Article
- Chemotherapy for the treatment of malignant peripheral nerve sheath tumors in neurofibromatosis 1: a 10-year institutional review.Orphanet journal of rare diseases · 2013Article
- MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis.BMC genomics · 2013Article
- An emerging role for microRNAs in NF1 tumorigenesis.Human genomics · 2012Review
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patients with NF1 microdeletion develop more neurofibromas at a younger age, and have an increased risk of malignant peripheral nerve sheath tumors (MPNSTs). We postulated that the increased risk of malignancy could be due to inactivation, in addition to NF1, of a second tumor suppressor gene located in the typical 1.4-Mb microdeletion found in most of the microdeleted patients. We investigated the expression of NF1, the other 16 protein-coding genes and the 2 microRNAs located in the 1.4-Mb microdeletion by means of real-time quantitative reverse-transcription polymerase chain reaction (RT-PCR) in a large series of human dermal and plexiform neurofibromas and MPNSTs. Five genes were significantly upregulated: OMG and SUZ12 in plexiform neurofibromas and ATAD5, EVI2A and C17orf79 in MPNSTs. More interestingly, two genes were significantly downregulated (RNF135 and CENTA2) in tumor Schwann cells from MPNST biopsies and in MPNST cell lines. This study points to the involvement of several genes (particularly RNF135 and CENTA2) in the increased risk of malignancy observed in NF1-microdeleted patients.
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