Genetic and epigenetic drivers of neuroendocrine tumours (NET).

Di Domenico, Annunziata; Wiedmer, Tabea; Marinoni, Ilaria; Perren, Aurel (2017). Genetic and epigenetic drivers of neuroendocrine tumours (NET). Endocrine-related cancer, 24(9), R315-R334. BioScientifica Ltd. 10.1530/ERC-17-0012

[img] Text
2_48_Review Epi_Genetics NET.pdf - Published Version
Restricted to registered users only
Available under License Publisher holds Copyright.

Download (1MB) | Request a copy

Neuroendocrine tumours (NET) of the gastrointestinal tract and the lung are a rare and heterogeneous group of tumours. The molecular characterization and the clinical classification of these tumours have been evolving slowly and show differences according to organs of origin. Novel technologies such as next-generation sequencing revealed new molecular aspects of NET over the last years. Notably, whole-exome/genome sequencing (WES/WGS) approaches underlined the very low mutation rate of well-differentiated NET of all organs compared to other malignancies, while the engagement of epigenetic changes in driving NET evolution is emerging. Indeed, mutations in genes encoding for proteins directly involved in chromatin remodelling, such as DAXX and ATRX are a frequent event in NET. Epigenetic changes are reversible and targetable; therefore, an attractive target for treatment. The discovery of the mechanisms underlying the epigenetic changes and the implication on gene and miRNA expression in the different subgroups of NET may represent a crucial change in the diagnosis of this disease, reveal new therapy targets and identify predictive markers. Molecular profiles derived from omics data including DNA mutation, methylation, gene and miRNA expression have already shown promising results in distinguishing clinically and molecularly different subtypes of NET. In this review, we recapitulate the major genetic and epigenetic characteristics of pancreatic, lung and small intestinal NET and the affected pathways. We also discuss potential epigenetic mechanisms leading to NET development.

Item Type:

Journal Article (Review Article)

Division/Institute:

04 Faculty of Medicine > Service Sector > Institute of Pathology

Graduate School:

Graduate School for Cellular and Biomedical Sciences (GCB)

UniBE Contributor:

Di Domenico, Annunziata; Wiedmer, Tabea; Marinoni, Ilaria and Perren, Aurel

Subjects:

500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

1351-0088

Publisher:

BioScientifica Ltd.

Language:

English

Submitter:

Aurel Perren

Date Deposited:

16 Oct 2017 15:51

Last Modified:

16 Oct 2017 15:51

Publisher DOI:

10.1530/ERC-17-0012

PubMed ID:

28710117

Uncontrolled Keywords:

DNA methylation chromatin epigenetic genetic genomic histone modification lung NET and small intestinal NET pancreatic NET

BORIS DOI:

10.7892/boris.106013

URI:

https://boris.unibe.ch/id/eprint/106013

Actions (login required)

Edit item Edit item
Provide Feedback