The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00179906%3A_____%2F16%3A10332330" target="_blank" >RIV/00179906:_____/16:10332330 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/16:10332330 RIV/00216208:11150/16:10332330

Result on the web

<a href="http://dx.doi.org/10.1016/j.gie.2016.06.023" target="_blank" >http://dx.doi.org/10.1016/j.gie.2016.06.023</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.gie.2016.06.023" target="_blank" >10.1016/j.gie.2016.06.023</a>

Result language

angličtina

Original language name

The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature

Original language description

Background and Aims: Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) has to date been recognized in only 8 families worldwide. Recently, different point mutations within the Ying Yang 1 (YY1) binding motif in promoter 1B of the APC gene were assigned as causal in 6 families with GAPPS. Methods: We diagnosed GAPPS across 3 generations in a Czech white family. Results: The proband's mother died of gastric cancer at 49 years of age. The proband died of gastric cancer at 56 years of age. All 3 of the proband's daughters inherited polyposis, involving exclusively the gastric fundus and body, with relative sparing of the lesser curve. The daughters have all been regularly surveyed endoscopically. Polyposis progressed rapidly with intestinal differentiated low-grade and high-grade dysplasia present on polypectomy specimens 5 years after the original diagnosis. On this basis, all 3 of the proband's daughters were scheduled for prophylactic total gastrectomy. Unfortunately, the middle daughter presented with generalized gastric adenocarcinoma and died at the age of 26 years. The other 2 daughters (aged 30 and 23 years) underwent total gastrectomy within 6 weeks of their sister's death; histology of surgical specimens showed gastric adenocarcinoma stage IA (pT1a, N0, M0) in both cases. Bi-directional Sanger sequencing of promoter 1B revealed a point mutation (c.-191 T>C) in all 3 daughters of the proband. Conclusions: Atypical endoscopic progression of the fundic gland polyposis, with the presence of dysplasia on polypectomy specimens and genetic testingwith recently discoveredmutations in promoter 1B of the APCgene might help clinicians to decide whether prophylactic gastrectomy should be performed.

Czech name

—

Czech description

—

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FE - Other fields of internal medicine

OECD FORD branch

—

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2016

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Gastrointestinal Endoscopy

ISSN

0016-5107

e-ISSN

—

Volume of the periodical

84

Issue of the periodical within the volume

4

Country of publishing house

US - UNITED STATES

Number of pages

8

Pages from-to

718-725

UT code for WoS article

000389543000024

EID of the result in the Scopus database

2-s2.0-84994342363