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

Viviana Tritto, Luca Ferrari, Silvia Esposito, Paola Zuccotti, Donatella Bianchessi, Federica Natacci, Veronica Saletti, Marica Eoli, Paola Riva

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article number892
JournalGenes
Volume10
Issue number11
DOIs
Publication statusPublished - Nov 2019

Keywords

  • ANRIL variants
  • Mild NF1 phenotype
  • NcRNA
  • Neurofibromatosis type 1
  • Optic glioma
  • Tumor development

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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