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GAPPS - syndrom adenokarcinomu žaludku a mnohočetné polypózy žaludku v 8 rodinách testovaných v Masarykově onkologickém ústavu – prevence vč. profylaktické gastrektomie

Identifikátory výsledku

  • Kód výsledku v IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F19%3A00112755" target="_blank" >RIV/00216224:14110/19:00112755 - isvavai.cz</a>

  • Výsledek na webu

    <a href="https://www.linkos.cz/english-summary/klinicka-onkologie-journal/2019-08-18-supplementum-2-en/gapps-syndrom-adenokarcinomu-zaludku-a-mnohocetne-polypozy-zaludku-v-8-rodinach-1/" target="_blank" >https://www.linkos.cz/english-summary/klinicka-onkologie-journal/2019-08-18-supplementum-2-en/gapps-syndrom-adenokarcinomu-zaludku-a-mnohocetne-polypozy-zaludku-v-8-rodinach-1/</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.14735/amko2019S109" target="_blank" >10.14735/amko2019S109</a>

Alternativní jazyky

  • Jazyk výsledku

    angličtina

  • Název v původním jazyce

    GAPPS - syndrom adenokarcinomu žaludku a mnohočetné polypózy žaludku v 8 rodinách testovaných v Masarykově onkologickém ústavu – prevence vč. profylaktické gastrektomie

  • Popis výsledku v původním jazyce

    Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare variant of familial adenomatous polyposis. It is an autosomal-dominant cancer-predisposition syndrome with massive polyposis of the stomach and a significant risk of gastric adenocarcinoma. Li et al., 2016, described point mutations in the Ying Yang 1 binding site of the APC gene 1B promoter associated with GAPPS syndrome. The first GAPPS syndrome in a Czech family was described in 2016. At Masaryk Memorial Cancer Institute, GAPPS syndrome was diagnosed in eight families using Sanger sequencing. In all families, one mutation in promoter 1B of APC gene NM_001127511: C.-191T&gt;C was detected. This mutation was not found in any patient with multiple colon polyposis without a detected classic mutation in the APC gene. In total, 24 carriers of this mutation in promoter 1B of the APC gene were detected. Out of those 24 carriers, 20 had massive gastric polyposis with more than 100 fundic glandular polyps diagnosed between the age of 22 and 65, 5 had already died of adenocarcinoma of the stomach (at the ages of 29, 40, 59, 60 and 64, respectively) and another woman was treated at the age of 29. Two female carriers do not yet have polyposis of the stomach at the ages of 31 and 65, respectively; one female carrier has incipient polyposis at the age of 58. A male carrier does not have any clinical symptoms, gastroscopy was not indicated because of his age. Prophylactic total gastrectomy with D2 lymphadenectomy has already been performed 6 times at Masaryk Memorial Cancer Institute, in 5 cases without adenocarcinoma at the ages of 27, 34, 44, 51 and 66, respectively; in one female carrier adenocarcinoma of the stomach was detected in a histology specimen. Two prophylactic gastrectomies with D1 lymphadenectomy were performed at University Hospital Brno at the ages of 42 and 50, respectively. In the Czech Republic point mutation c.-191T&gt;C (rs879253783) in the 1B promoter of the APC gene is a frequent cause of gastric polyposis with a high risk of gastric adenocarcinoma, even at a young age. Positively tested individuals are recommended to high-risk oncology clinic. A necessary part of the discussion with the patient is information about a preventive gastrectomy.

  • Název v anglickém jazyce

    GAPPS - syndrom adenokarcinomu žaludku a mnohočetné polypózy žaludku v 8 rodinách testovaných v Masarykově onkologickém ústavu – prevence vč. profylaktické gastrektomie

  • Popis výsledku anglicky

    Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare variant of familial adenomatous polyposis. It is an autosomal-dominant cancer-predisposition syndrome with massive polyposis of the stomach and a significant risk of gastric adenocarcinoma. Li et al., 2016, described point mutations in the Ying Yang 1 binding site of the APC gene 1B promoter associated with GAPPS syndrome. The first GAPPS syndrome in a Czech family was described in 2016. At Masaryk Memorial Cancer Institute, GAPPS syndrome was diagnosed in eight families using Sanger sequencing. In all families, one mutation in promoter 1B of APC gene NM_001127511: C.-191T&gt;C was detected. This mutation was not found in any patient with multiple colon polyposis without a detected classic mutation in the APC gene. In total, 24 carriers of this mutation in promoter 1B of the APC gene were detected. Out of those 24 carriers, 20 had massive gastric polyposis with more than 100 fundic glandular polyps diagnosed between the age of 22 and 65, 5 had already died of adenocarcinoma of the stomach (at the ages of 29, 40, 59, 60 and 64, respectively) and another woman was treated at the age of 29. Two female carriers do not yet have polyposis of the stomach at the ages of 31 and 65, respectively; one female carrier has incipient polyposis at the age of 58. A male carrier does not have any clinical symptoms, gastroscopy was not indicated because of his age. Prophylactic total gastrectomy with D2 lymphadenectomy has already been performed 6 times at Masaryk Memorial Cancer Institute, in 5 cases without adenocarcinoma at the ages of 27, 34, 44, 51 and 66, respectively; in one female carrier adenocarcinoma of the stomach was detected in a histology specimen. Two prophylactic gastrectomies with D1 lymphadenectomy were performed at University Hospital Brno at the ages of 42 and 50, respectively. In the Czech Republic point mutation c.-191T&gt;C (rs879253783) in the 1B promoter of the APC gene is a frequent cause of gastric polyposis with a high risk of gastric adenocarcinoma, even at a young age. Positively tested individuals are recommended to high-risk oncology clinic. A necessary part of the discussion with the patient is information about a preventive gastrectomy.

Klasifikace

  • Druh

    J<sub>SC</sub> - Článek v periodiku v databázi SCOPUS

  • CEP obor

  • OECD FORD obor

    30204 - Oncology

Návaznosti výsledku

  • Projekt

  • Návaznosti

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Ostatní

  • Rok uplatnění

    2019

  • Kód důvěrnosti údajů

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

Údaje specifické pro druh výsledku

  • Název periodika

    Klinická onkologie

  • ISSN

    0862-495X

  • e-ISSN

    1802-5307

  • Svazek periodika

    32

  • Číslo periodika v rámci svazku

    Supplementum 2

  • Stát vydavatele periodika

    CZ - Česká republika

  • Počet stran výsledku

    9

  • Strana od-do

    „2S109“-„2S117“

  • Kód UT WoS článku

  • EID výsledku v databázi Scopus

    2-s2.0-85071282259