Pubblicazioni

Genomic landscape of pancreatic neuroendocrine tumours: The International Cancer Genome Consortium  (2018)

Autori:
Mafficini, Andrea; Scarpa, Aldo
Titolo:
Genomic landscape of pancreatic neuroendocrine tumours: The International Cancer Genome Consortium
Anno:
2018
Tipologia prodotto:
Articolo in Rivista
Tipologia ANVUR:
Articolo su rivista
Lingua:
Inglese
Formato:
Elettronico
Referee:
No
Nome rivista:
Journal of Endocrinology
ISSN Rivista:
0022-0795
N° Volume:
236
Numero o Fascicolo:
3
Intervallo pagine:
R161-R167
Parole chiave:
Neuroendocrine tumours (NETs), nternational Cancer Genome Consortium
Breve descrizione dei contenuti:
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
Id prodotto:
100080
Handle IRIS:
11562/972260
ultima modifica:
11 novembre 2022
Citazione bibliografica:
Mafficini, Andrea; Scarpa, Aldo, Genomic landscape of pancreatic neuroendocrine tumours: The International Cancer Genome Consortium «Journal of Endocrinology» , vol. 236 , n. 32018pp. R161-R167

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo IRIS

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