Next Article in Journal
Genome-Wide Association Analyses of Equine Metabolic Syndrome Phenotypes in Welsh Ponies and Morgan Horses
Previous Article in Journal
Intermediate-Salinity Systems at High Altitudes in the Peruvian Andes Unveil a High Diversity and Abundance of Bacteria and Viruses
Previous Article in Special Issue
Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children
Open AccessArticle

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

1
Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, via F.lli Cervi 93, Segrate, 20090 Milan, Italy
2
Unit of Developmental Neurology, Fondazione I.R.C.C.S. Istituto Neurologico C. Besta, via Celoria 11, 20133 Milan, Italy
3
Unit of Molecular Neuro-Oncology, Fondazione I.R.C.C.S. Istituto Neurologico C. Besta, via Celoria 11, 20133 Milan, Italy
4
Unit of Medical Genetics, Fondazione I.R.C.C.S. Ca’ Granda Ospedale Maggiore Policlinico, via della Commenda 12, 20122 Milan, Italy
*
Authors to whom correspondence should be addressed.
Genes 2019, 10(11), 892; https://doi.org/10.3390/genes10110892
Received: 4 October 2019 / Revised: 29 October 2019 / Accepted: 30 October 2019 / Published: 5 November 2019
(This article belongs to the Special Issue Neurofibromatosis 1 Genetics)
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 ANRIL 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 ANRIL rs2151280 with the presence of optic gliomas and a mild expression of the NF1 phenotype. We also detected the LOH of ANRIL in different tumors from NF1 patients, supporting the involvement of ANRIL in some NF1-associated tumors. Our results suggest that ANRIL rs2151280 may be a potential diagnostic and prognostic marker, addressing early diagnosis of optic glioma and predicting the phenotype severity in NF1 patients. View Full-Text
Keywords: neurofibromatosis type 1; ncRNA; tumor development; optic glioma; mild NF1 phenotype; ANRIL variants neurofibromatosis type 1; ncRNA; tumor development; optic glioma; mild NF1 phenotype; ANRIL variants
Show Figures

Figure 1

MDPI and ACS Style

Tritto, V.; Ferrari, L.; Esposito, S.; Zuccotti, P.; Bianchessi, D.; Natacci, F.; Saletti, V.; Eoli, M.; Riva, P. 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. Genes 2019, 10, 892.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop