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

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FE - Ostatní obory vnitřního lékařství

OECD FORD obor

—

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2016

Kód důvěrnosti údajů

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

Název periodika

Gastrointestinal Endoscopy

ISSN

0016-5107

e-ISSN

—

Svazek periodika

84

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

718-725

Kód UT WoS článku

000389543000024

EID výsledku v databázi Scopus

2-s2.0-84994342363