Non-Coding RNA and Tumor Development in Neurofibromatosis Type 1: ANRIL Rs2151280 Is Associated with Optic Glioma Development and a Mild Phenotype in Neurofibromatosis Type 1 Patients

• Published in: Genes Vol. 10; no. 11; p. 892
• Main Authors: Tritto, Viviana, Ferrari, Luca, Esposito, Silvia, Zuccotti, Paola, Bianchessi, Donatella, Natacci, Federica, Saletti, Veronica, Eoli, Marica, Riva, Paola
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 05.11.2019; MDPI
• Subjects: anril variants; Astrocytoma; Astrocytoma - complications; Brain cancer; Brain tumors; Chromatin remodeling; DNA polymerase; Gene expression; Genes; Genes, Neurofibromatosis 1; Genetic disorders; Genotype; Genotypes; Glioma; Humans; Laboratories; Loss of Heterozygosity; Magnetic resonance imaging; MicroRNAs; MicroRNAs - genetics; mild nf1 phenotype; miRNA; Mutation; ncrna; Nerve Sheath Neoplasms - complications; Nervous system; Neurofibroma - complications; Neurofibroma, Plexiform - complications; Neurofibromatosis; Neurofibromatosis 1 - complications; Neurofibromatosis 1 - genetics; neurofibromatosis type 1; Neurological disorders; Non-coding RNA; optic glioma; Optic Nerve Glioma - complications; Optic Nerve Glioma - genetics; Optic Nerve Glioma - metabolism; Patients; Peripheral nerves; Phenotype; Phenotypes; Polymorphism; Post-transcription; Recklinghausen's disease; RNA, Long Noncoding - genetics; RNA, Long Noncoding - metabolism; RNA, Untranslated - genetics; Signal transduction; Signal Transduction - genetics; Software; tumor development; Tumors; United States > US; Germany; mild NF1 phenotype; neurofibromatosis type 1; tumor development; ANRIL variants; ncRNA; optic glioma
• ISSN: 2073-4425; 2073-4425
• DOI: 10.3390/genes10110892

Non-coding RNAs (ncRNAs) are known to regulate gene expression at the transcriptional and post-transcriptional levels, chromatin remodeling, and signal transduction. The identification of different species of ncRNAs, microRNAs (miRNAs), circular RNAs (circRNAs), and long ncRNAs (lncRNAs)-and in some cases, their combined regulatory function on specific target genes-may help to elucidate their role in biological processes. NcRNAs' deregulation has an impact on the impairment of physiological programs, driving cells in cancer development. We here carried out a review of literature concerning the implication of ncRNAs on tumor development in neurofibromatosis type 1 (NF1), an inherited tumor predisposition syndrome. A number of miRNAs and a lncRNA has been implicated in NF1-associated tumors, such as malignant peripheral nerve sheath tumors (MPNSTs) and astrocytoma, as well as in the pathognomonic neurofibromas. Some authors reported that the lncRNA was deregulated in the blood of NF1 patients with plexiform neurofibromas (PNFs), even if its role should be further elucidated. We here provided original data concerning the association of a specific genotype about rs2151280 with the presence of optic gliomas and a mild expression of the NF1 phenotype. We also detected the LOH of in different tumors from NF1 patients, supporting the involvement of in some NF1-associated tumors. Our results suggest that rs2151280 may be a potential diagnostic and prognostic marker, addressing early diagnosis of optic glioma and predicting the phenotype severity in NF1 patients.