Publications

Authors:

Mafficini, Andrea; Scarpa, Aldo

Title:

Genomic landscape of pancreatic neuroendocrine tumours: The International Cancer Genome Consortium

Year:

2018

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Format:

Elettronico

Referee:

No

Name of journal:

Journal of Endocrinology

ISSN of journal:

0022-0795

N° Volume:

236

Number or Folder:

3

Page numbers:

R161-R167

Keyword:

Neuroendocrine tumours (NETs), nternational Cancer Genome Consortium

Short description of contents:

Neuroendocrine tumours (NETs) may arise throughout the body and are a highly heterogeneous, relatively rare class of neoplasms difficult to study also for the lack of disease models. Despite this, knowledge on their molecular alterations has expanded in the latest years, also building from genetic syndromes causing their onset. Pancreatic NETs (PanNETs) have been among the most studied, and research so far has outlined a series of recurring features, as inactivation of MEN1, VHL, TSC1/2 genes, and hyperactivation of the PI3K/mTOR pathway. Next-Generation Sequencing has added new information by showing the key role of alternative lengthening of telomeres, driven in a fraction of PanNETs by inactivation of ATRX/DAXX. Despite this accumulation of knowledge, single studies often relied on few cases or were limited to either the DNA, RNA, protein or epigenetic level with lack of integrative analysis. The International Cancer Genome Consortium aimed at removing these barriers through a strict process of data and samples collection, to produce whole-genome integrated analyses for many tumour types. The results of this effort on PanNETs have been recently published and, while confirming previous observations, provide a first snapshot of how heterogeneous is the combination of genetic alterations that drive this tumour type, yet converging into four pathways whose alteration has been enriched by newly discovered mechanisms. While calling for further integration of genetic and epigenetic analyses, these data allow to reconcile previous findings in a defined frame, and may provide clinical research with markers for patients stratification and to guide targeted therapy decisions.

Note:

pii: JOE-17-0560

Product ID:

100080

Handle IRIS:

11562/972260

Last Modified:

November 11, 2022

Bibliographic citation:

Mafficini, Andrea; Scarpa, Aldo, Genomic landscape of pancreatic neuroendocrine tumours: The International Cancer Genome Consortium «Journal of Endocrinology» , vol. 236 , n. 3 , 2018 , pp. R161-R167

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