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 language | English |
|---|---|
| Article number | 892 |
| Journal | Genes |
| Volume | 10 |
| Issue number | 11 |
| DOIs | |
| Publication status | Published - Nov 2019 |
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Keywords
- ANRIL variants
- Mild NF1 phenotype
- NcRNA
- Neurofibromatosis type 1
- Optic glioma
- Tumor development
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
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. / Tritto, Viviana; Ferrari, Luca; Esposito, Silvia; Zuccotti, Paola; Bianchessi, Donatella; Natacci, Federica; Saletti, Veronica; Eoli, Marica; Riva, Paola.
In: Genes, Vol. 10, No. 11, 892, 11.2019.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Non-coding RNA and tumor development in neurofibromatosis type 1
T2 - ANRIL Rs2151280 is associated with optic glioma development and a mild phenotype in neurofibromatosis type 1 patients
AU - Tritto, Viviana
AU - Ferrari, Luca
AU - Esposito, Silvia
AU - Zuccotti, Paola
AU - Bianchessi, Donatella
AU - Natacci, Federica
AU - Saletti, Veronica
AU - Eoli, Marica
AU - Riva, Paola
PY - 2019/11
Y1 - 2019/11
N2 - 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.
AB - 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.
KW - ANRIL variants
KW - Mild NF1 phenotype
KW - NcRNA
KW - Neurofibromatosis type 1
KW - Optic glioma
KW - Tumor development
UR - http://www.scopus.com/inward/record.url?scp=85074622904&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85074622904&partnerID=8YFLogxK
U2 - 10.3390/genes10110892
DO - 10.3390/genes10110892
M3 - Article
C2 - 31694342
AN - SCOPUS:85074622904
VL - 10
JO - Genes
JF - Genes
SN - 2073-4425
IS - 11
M1 - 892
ER -