Identification of Genes Potentially Involved in the Increased Risk of Malignancy in NF1-Microdeleted Patients
Copyright policy )Identification of Genes Potentially Involved in the Increased Risk of Malignancy in NF1-Microdeleted Patients
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.
- UNIVERSITE PARIS DESCARTES France
- University of Paris France
- French Institute of Health and Medical Research France
- Beaujon Hospital France
- University of Paris France
Gene Expression Profiling, Ubiquitin-Protein Ligases, GTPase-Activating Proteins, Membrane Proteins, Nerve Sheath Neoplasms, Gene Expression Regulation, Neoplastic, MicroRNAs, Open Reading Frames, Risk Factors, Cell Line, Tumor, Genes, Neurofibromatosis 1, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Schwann Cells, Carrier Proteins, Gene Deletion
Gene Expression Profiling, Ubiquitin-Protein Ligases, GTPase-Activating Proteins, Membrane Proteins, Nerve Sheath Neoplasms, Gene Expression Regulation, Neoplastic, MicroRNAs, Open Reading Frames, Risk Factors, Cell Line, Tumor, Genes, Neurofibromatosis 1, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Schwann Cells, Carrier Proteins, Gene Deletion
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).50 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
Citations provided by BIP!Popularity provided by BIP!