Endoscopy 2018; 50(04): S76
DOI: 10.1055/s-0038-1637253
ESGE Days 2018 oral presentations
21.04.2018 – Stomach: Improving diagnosis
Georg Thieme Verlag KG Stuttgart · New York

RANDOM BIOPSIES IN PATIENTS HARBOURING CHD1 MUTATION: TIME TO CHANGE PROTOCOL?

R Castro
1   Instituto Português de Oncologia do Porto Francisco Gentil, Porto, Portugal
,
I Pita
1   Instituto Português de Oncologia do Porto Francisco Gentil, Porto, Portugal
,
D Libânio
1   Instituto Português de Oncologia do Porto Francisco Gentil, Porto, Portugal
,
M Dinis-Ribeiro
1   Instituto Português de Oncologia do Porto Francisco Gentil, Porto, Portugal
,
C Brandão
1   Instituto Português de Oncologia do Porto Francisco Gentil, Porto, Portugal
› Author Affiliations
Further Information

Publication History

Publication Date:
27 March 2018 (online)

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Aims:

Hereditary diffuse gastric cancer (HDGC) can be caused by a germline mutation in CDH1 gene. Affected individuals generally present multiple foci of signet ring cell carcinoma (SRCC) scattered throughout the gastric mucosa, which are difficult to detect by endoscopy, and prophylactic total gastrectomy remains the first therapeutic option. We aim to assess and compare the accuracy of random biopsies (according to Cambridge protocol) with targeted biopsies, in patients with pathological CHD1 germline mutation.

Methods:

Prospective cohort study, between September 2016 and October 2017, including 16 patients with CDH1 mutation submitted to a baseline high-resolution endoscopy (Olympus-GIF-HQ190) with random biopsies according to Cambridge protocol and additional targeted biopsies of any visible lesion. Three patients performed 2 endoscopies during the study period. The total number of biopsies and the total number and localization of SRCC foci were registered. For those patients submitted to prophylactic gastrectomy data was compared with surgical specimen histology.

Results:

Nineteen endoscopies and a total of 614 biopsies were performed; 573 random biopsies and 41 targeted biopsies; mean 32 biopsies per endoscopy. Three patients presented only one SRCC focus in random biopsies and in one of those cancer was also noticeable in 2 targeted biopsies. One hundred and ninety one random biopsies vs. 21 targeted biopsies were necessary to identify SRCC. Eight patients were submitted to total gastrectomy and all surgical specimens presented SRCC foci. Of these, only 2 patients presented SRCC focus in biopsy samples from endoscopic evaluation.

Conclusions:

Despite the high number of random biopsies, endoscopy according to the Cambridge protocol presents many limitations for the diagnosis of HDGC. Thus, we believe that the main effort should be the recognition of subtle changes during endoscopy evaluation and we argue if target biopsies wouldn't be enough.