Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) – a rare recently described gastric polyposis syndrome – report of a case

Abstract

In rare cases with multiple gastric polyps in the corpus and fundus, a recently described gastric polyposis syndrome called gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) has to be considered. We report on the findings in a patient fulfilling the criteria of this disease.

A female patient born in 1977 underwent gastroscopy in 2005 due to recurrent abdominal pain. Endoscopy revealed more than 100 fundic gland polyps in the corpus and fundus. An ileocolonoscopy was inconspicuous. The patient did not take proton pump inhibitors. In follow-up biopsies, fundic gland polyps with low-grade dysplasia were observed. In 2015 gastroscopy with biopsy revealed for the first time high-grade dysplasia in a polyp, and the patient underwent prophylactic gastrectomy.

Macroscopic examination of the gastrectomy specimen revealed hundreds of polyps predominantly measuring 3 mm in diameter covering the fundus and corpus. Histology showed fundic gland polyps, mainly covered by normal appearing foveolae. However, several of them were covered by lesions reminiscent of gastric foveolar adenomas with low- and focally high-grade dysplasia. Molecular pathology revealed a point mutation in the adenomatous polyposis coli promotor 1B. These findings in conjunction with the knowledge that the patient’s father had died of gastric carcinoma in his 50 s led to the diagnosis of the autosomal dominant syndrome GAPPS, which has hitherto been described in 9 families.

Zusammenfassung

In seltenen Fällen von multiplen Magenpolypen in Korpus und Fundus muss ein kürzlich beschriebenes Syndrom namens GAPPS (gastric adenocarcinoma and proximal polyposis of the stomach) in Betracht gezogen werden. Wir berichten von einer Patientin, welche die Kriterien dieser Erkrankung erfüllt.

Die 1977 geborene Frau unterzog sich erstmals 2005 aufgrund von rezidivierender Oberbauchbeschwerden einer Gastroskopie, bei der sich mehrere hundert Polypen fanden. Diese waren auf Korpus und Fundus beschränkt und wurden histologisch als Elster’sche Drüsenkörperzysten klassifiziert. Eine Ileokoloskopie war unauffällig.

Rebiopsien in den Folgejahren zeigten wiederum Elster’sche Drüsenkörperzysten mit vereinzelt geringgradiger Epitheldysplasie. 2015 fand sich ein Anteil eines foveolären Adenoms mit bis zu hochgradiger Epitheldysplasie, woraufhin sich die Patientin einer prophylaktischen Gastrektomie unterzog.

Das Gastrektomiepräparat wies einen Rasen an Elster’schen Drüsenkörperzysten in Fundus und Korpus auf, zahlreich mit Proliferationen an der Oberfläche, die als foveoläre Adenome mit multifokal hochgradiger Epitheldysplasie klassifiziert wurden. Die molekularpathologische Analyse ergab eine Punktmutation im APC (adenomatöse Polypose des Colons) Promotor 1B.

Diese Befundkonstellation in Zusammenschau mit dem Wissen, dass der Vater an einem Magenkarzinom verstorben war, führte zur Diagnose des autosomal dominant vererbten Syndroms GAPPS, welches bisher in neun Familien beschrieben wurde.

Schlüsselwörter

Elster’sche Drüsenkörperzysten - Dysphasie - Magenpolypose

Key words

fundic gland polyps - dysplasia - gastric polyposis syndrome

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