Pubblicazioni

Autori:

Simbolo, Michele; Vicentini, Caterina; Mafficini, Andrea; Fassan, Matteo; Pedron, Serena; Corbo, Vincenzo; Mastracci, Luca; Rusev, Borislav; Pedrazzani, Corrado; Landoni, Luca; Grillo, Federica; Cingarlini, Sara; Rindi, Guido; Luchini, Claudio; Scarpa, Aldo; Lawlor, Rita T

Titolo:

Mutational and copy number asset of primary sporadic neuroendocrine tumors of the small intestine

Anno:

2018

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Referee:

No

Nome rivista:

VIRCHOWS ARCHIV

ISSN Rivista:

0945-6317

N° Volume:

473

Numero o Fascicolo:

6

Editore:

Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229

Intervallo pagine:

709-717

Parole chiave:

Neuroendocrine tumors; Prognostic markers; SRC; Small intestine

Breve descrizione dei contenuti:

Small intestine neuroendocrine tumors (SI-NETs) represent the most common histotype among small intestine neoplasms, and metastatic disease is usually present at diagnosis. A retrospective series of 52 sporadic primary surgically resected SI-NETs, which were metastatic at diagnosis, was analyzed by high-coverage target sequencing (HCTS) for the mutational status of 57 genes and copy number status of 40 genes selected from recently published genome sequencing data. Seven genes were found to be recurrently mutated: CDKN1B (9.6%), APC and CDKN2C (each 7.7%), BRAF, KRAS, PIK3CA, and TP53 (each 3.8%). Copy number analysis showed frequent allelic loss of 4 genes located on chromosome 18 (BCL2, CDH19, DCC, and SMAD4) in 23/52 (44.2%) and losses on chromosomes 11 (38%) and 16 (15%). Other recurrent copy number variations were gains for genes located on chromosomes 4 (31%), 5 (27%), 14 (36%), and 20 (20%). Univariate survival analysis showed that SRC gene copy number gains were associated with a poorer prognosis (p = 0.047). Recurrent copy number variations are important events in SI-NET and SRC may represent a novel prognostic biomarker for this tumor type.

Id prodotto:

104292

Handle IRIS:

11562/985608

ultima modifica:

12 novembre 2022

Citazione bibliografica:

Simbolo, Michele; Vicentini, Caterina; Mafficini, Andrea; Fassan, Matteo; Pedron, Serena; Corbo, Vincenzo; Mastracci, Luca; Rusev, Borislav; Pedrazzani, Corrado; Landoni, Luca; Grillo, Federica; Cingarlini, Sara; Rindi, Guido; Luchini, Claudio; Scarpa, Aldo; Lawlor, Rita T, Mutational and copy number asset of primary sporadic neuroendocrine tumors of the small intestine «VIRCHOWS ARCHIV» , vol. 473 , n. 6 , 2018 , pp. 709-717

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