Pubblicazioni

Autori:

Stella, Gm; Benvenuti, S; Gramaglia, D; Scarpa, Aldo; Tomezzoli, Anna; Cassoni, P; Senetta, R; Venesio, T; Pozzi, E; Bardelli, A; Comoglio, Pm

Titolo:

MET mutations in cancers of unknown primary origin (CUPs)

Anno:

2011

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Formato:

A Stampa

Referee:

Sì

Nome rivista:

Human Mutation

ISSN Rivista:

1059-7794

N° Volume:

32

Numero o Fascicolo:

1

Intervallo pagine:

44-50

Parole chiave:

Met; tyrosine kinase; somatic mutation; invasive growth; metastases

Breve descrizione dei contenuti:

Cancer of unknown primary origin (CUP) defines metastatic disease of unknown origin, accounting for 3-5% of all cancers. Growing evidence demonstrates that inappropriate execution of a genetic program named 'invasive growth', driven by the MET oncogene, is implicated in the metastatic process. MET activation in cancers is mainly consequent to overexpression, while mutations are rarely found. We reasoned that the occurrence of MET somatic mutations might sustain premature occult dissemination of cancer cells, such as that observed in CUPs. We sequenced MET in genomic DNA obtained from 47 early metastatic cancers. By extensive immunohistochemical analysis a primary site was afterward postulated in 24 patients, whereas 23 cases remained of unknown primary (CUPs). MET somatic mutations were found in 7 cases, all belonging to the CUP cohort. Mutational incidence (30%) was thus significantly higher than the expected one (4%), in the absence of high mutational background. Several nucleotide changes were novel and clustered either in the kinase domain or in the extracellular semaphorin domain. Mutated receptors were functional and sustained the transformed phenotype, suggesting that MET activating mutations are genetic markers associated with the CUP syndrome. © 2010 Wiley-Liss, Inc.

Id prodotto:

57717

Handle IRIS:

11562/345608

depositato il:

19 gennaio 2011

ultima modifica:

9 novembre 2022

Citazione bibliografica:

Stella, Gm; Benvenuti, S; Gramaglia, D; Scarpa, Aldo; Tomezzoli, Anna; Cassoni, P; Senetta, R; Venesio, T; Pozzi, E; Bardelli, A; Comoglio, Pm, MET mutations in cancers of unknown primary origin (CUPs) «Human Mutation» , vol. 32 , n. 1 , 2011 , pp. 44-50

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