Z Gastroenterol 2017; 55(11): 1131-1134
DOI: 10.1055/s-0043-117182
Kasuistik
© Georg Thieme Verlag KG Stuttgart · New York

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

GAPPS – eine seltene, 2012 erstmals beschriebene Magenpolypose – ein Fallbericht
Andrea Beer
1   Department of Pathology, Medical University of Vienna, Vienna, Austria
,
Berthold Streubel
1   Department of Pathology, Medical University of Vienna, Vienna, Austria
,
Reza Asari
2   Department of Surgery, Medical University of Vienna, Vienna, Austria
,
Clemens Dejaco
3   Department of Internal Medicine III, Division of Gastroenterology and Hepatology, Medical University of Vienna, Vienna, Austria
,
Georg Oberhuber
1   Department of Pathology, Medical University of Vienna, Vienna, Austria
› Institutsangaben
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Publikationsverlauf

27. März 2017

17. Juli 2017

Publikationsdatum:
15. November 2017 (online)

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.

 
  • References

  • 1 Brosens LA, Wood LD, Offerhaus GJ. et al. Pathology and genetics of syndromic gastric polyps. Int J Surg Pathol 2016; 24: 185-199
  • 2 Schulz C, Schütte K, Malfertheiner P. Rare neoplasia of the stomach. Gastrointest Tumors 2015; 2: 52-60
  • 3 Elhanafi S, Saadi M, Lou W. et al. Gastric polyps: association with Helicobacter pylori status and the pathology of the surrounding mucosa, a cross sectional study. World J Gastrointest Endosc 2015; 7: 995-1002
  • 4 Buyukasik K, Sevinc MM, Gunduz UR. et al. Upper gastrointestinal tract polyps: what do we know about them?. Asian Pac J Cancer Prev 2015; 16: 2999-3001
  • 5 Vatansever S, Akpınar Z, Alper E. et al. Gastric polyps and polypoid lesions: Retrospective analysis of 36650 endoscopic procedures in 29940 patients. Turk J Gastroenterol 2015; 26: 117-122
  • 6 Worthley DL, Phillips KD, Wayte N. et al. Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome. Gut 2012; 61: 774-779
  • 7 Yanaru-Fujisawa R, Nakamura S, Moriyama T. et al. Familial fundic gland polyposis with gastric cancer. Gut 2012; 61: 1103-1104
  • 8 Li J, Woods SL, Healey S. et al. Point mutations in exon 1B of APC reveal gastric adenocarcinoma and proximal polyposis of the stomach as a familial adenomatous polyposis variant. Am J Hum Genet 2016; 98: 830-842
  • 9 Preusser M, Berghoff AS, Koller R. et al. Spectrum of gene mutations detected by next generation exome sequencing in brain metastases of lung adenocarcinoma. Eur J Cancer 2015; 51: 1803-1811
  • 10 Repak R, Kohoutova D, Podhola M. et al. The first European family with gastric adenocarcinoma and proximal polyposis of the stomach: case report and review of the literature. Gastrointest Endosc 2016; 84: 718-725
  • 11 Abraham SC, Montgomery EA, Singh VK. et al. Gastric adenomas: intestinal-type and gastric-type adenomas differ in the risk of adenocarcinoma and presence of background mucosal pathology. Am J Surg Pathol 2002; 26: 1276-1285
  • 12 Hassan A, Yerian LM, Kuan SF. et al. Immunohistochemical evaluation of adenomatous polyposis coli, beta-catenin, c-Myc, cyclin D1, p53, and retinoblastoma protein expression in syndromic and sporadic fundic gland polyps. Hum Pathol 2004; 35: 328-334
  • 13 Arnason T, Liang WY, Alfaro E. et al. Morphology and natural history of familial adenomatous polyposis-associated dysplastic fundic gland polyps. Histopathology 2014; 65: 353-362
  • 14 Zelter A, Fernández JL, Bilder C. et al. Fundic gland polyps and association with proton pump inhibitor intake: a prospective study in 1780 endoscopies. Dig Dis Sci 2011; 56: 1743-1748
  • 15 Brockmeyer JR, Connolly EE, Wittchow RJ. et al. Resolution of fundic gland polyposis following laparoscopic magnetic sphincter augmentation and subsequent cessation of proton pump inhibitors. Case Rep Gastrointest Med 2015; 2015: 576263