Unknown

Dataset Information

0

Frequent GNAS mutations in low-grade appendiceal mucinous neoplasms.


ABSTRACT: The molecular basis for the development of appendiceal mucinous tumours, which can be a cause of pseudomyxoma peritonei, remains largely unknown.Thirty-five appendiceal mucinous neoplasms were analysed for GNAS and KRAS mutations. A functional analysis of mutant GNAS was performed using a colorectal cancer cell line.A mutational analysis identified activating GNAS mutations in 16 of 32 low-grade appendiceal mucinous neoplasms (LAMNs) but in none of three mucinous adenocarcinomas (MACs). KRAS mutations were found in 30 LAMNs and in all MACs. We additionally analysed a total of 186 extra-appendiceal mucinous tumours and found that GNAS mutations were highly prevalent in intraductal papillary mucinous tumours of the pancreas (88%) but were rare or absent in mucinous tumours of the colorectum, ovary, lung and breast (0-9%). The prevalence of KRAS mutations was quite variable among the tumours. The introduction of the mutant GNAS into a colorectal cancer cell line markedly induced MUC2 and MUC5AC expression, but did not promote cell growth either in vitro or in vivo.Activating GNAS mutations are a frequent and characteristic genetic abnormality of LAMN. Mutant GNAS might play a direct role in the prominent mucin production that is a hallmark of LAMN.

SUBMITTER: Nishikawa G 

PROVIDER: S-EPMC3590682 | BioStudies | 2013-01-01

SECONDARY ACCESSION(S): 10.1038/bjc.2013.47

REPOSITORIES: biostudies

Similar Datasets

2014-01-01 | S-EPMC4062050 | BioStudies
2016-01-01 | S-EPMC5524210 | BioStudies
2018-01-01 | S-EPMC6044476 | BioStudies
2019-01-01 | S-EPMC6886223 | BioStudies
2011-01-01 | S-EPMC3160649 | BioStudies
1000-01-01 | S-EPMC3461374 | BioStudies
2014-01-01 | S-EPMC4045804 | BioStudies
2020-01-01 | S-EPMC7576136 | BioStudies
2014-01-01 | S-EPMC4057302 | BioStudies
2018-01-01 | S-EPMC6219919 | BioStudies