open access

Vol 52, No 2 (2014)
Original paper
Submitted: 2013-11-15
Accepted: 2014-06-03
Published online: 2014-07-09
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GNAS1 mutation analysis in gastrointestinal tumors

Bernhard Maria Walther, Ina Walther, Yuan Chen, Iver Petersen
DOI: 10.5603/FHC.2014.0011
·
Folia Histochem Cytobiol 2014;52(2):90-95.

open access

Vol 52, No 2 (2014)
ORIGINAL PAPERS
Submitted: 2013-11-15
Accepted: 2014-06-03
Published online: 2014-07-09

Abstract

GNAS1 codes for a part of the a-stimulatory subunit (Gsa) of the G protein. Mutation of GNAS1 has been frequently found in myxoid soft tissues, however, in gastrointestinal tumors, little is known about the mutation status of GNAS1. The aim of the study was to analyze the occurrence of GNAS1 mutations indifferent gastrointestinal, gastroenteropancreatic neuroendocrine tumors (GEP-NETs) and colorectal tumors. Mutation status of GNAS1 exon 8 was analyzed in one hundred thirty-five formalin-fixed, paraffin-embedded (FFPE) gastrointestinal tumor samples including 45 tubular-villous adenomas, 11 tubular adenomas, 6 villousadenomas, 10 hyperplastic gastric polyps, 31 GEP-NETs and 32 colorectal adenocarcinomas by using polymerase chain reaction (PCR) and direct sequencing. Five GNAS1 mutations were found in 2 tubular-villous adenomas, 2 villous adenomas and 1 colorectal adenocarcinoma. No mutations were detected in the tubular adenomas, the hyperplastic gastric polyps or GEP-NETs. GNAS1 mutation is not a frequent molecular event in GEP-NETs or hyperplastic gastric polyps. The study confirms the presence of GNAS1 mutations in colon tumors with villous differentiation.

Abstract

GNAS1 codes for a part of the a-stimulatory subunit (Gsa) of the G protein. Mutation of GNAS1 has been frequently found in myxoid soft tissues, however, in gastrointestinal tumors, little is known about the mutation status of GNAS1. The aim of the study was to analyze the occurrence of GNAS1 mutations indifferent gastrointestinal, gastroenteropancreatic neuroendocrine tumors (GEP-NETs) and colorectal tumors. Mutation status of GNAS1 exon 8 was analyzed in one hundred thirty-five formalin-fixed, paraffin-embedded (FFPE) gastrointestinal tumor samples including 45 tubular-villous adenomas, 11 tubular adenomas, 6 villousadenomas, 10 hyperplastic gastric polyps, 31 GEP-NETs and 32 colorectal adenocarcinomas by using polymerase chain reaction (PCR) and direct sequencing. Five GNAS1 mutations were found in 2 tubular-villous adenomas, 2 villous adenomas and 1 colorectal adenocarcinoma. No mutations were detected in the tubular adenomas, the hyperplastic gastric polyps or GEP-NETs. GNAS1 mutation is not a frequent molecular event in GEP-NETs or hyperplastic gastric polyps. The study confirms the presence of GNAS1 mutations in colon tumors with villous differentiation.

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Keywords

GNAS1 mutations; gastric cancer; intestinal tumors; CRC; GEP-NETs

About this article
Title

GNAS1 mutation analysis in gastrointestinal tumors

Journal

Folia Histochemica et Cytobiologica

Issue

Vol 52, No 2 (2014)

Article type

Original paper

Pages

90-95

Published online

2014-07-09

DOI

10.5603/FHC.2014.0011

Bibliographic record

Folia Histochem Cytobiol 2014;52(2):90-95.

Keywords

GNAS1 mutations
gastric cancer
intestinal tumors
CRC
GEP-NETs

Authors

Bernhard Maria Walther
Ina Walther
Yuan Chen
Iver Petersen

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