CC BY-NC-ND 4.0 · Endosc Int Open 2018; 06(08): E1037-E1043
DOI: 10.1055/a-0591-9054
Original article
Owner and Copyright © Georg Thieme Verlag KG 2018

Role of video capsule endoscopy in patients with constitutional mismatch repair deficiency (CMMRD) syndrome: report from the International CMMRD Consortium

Y. Shimamura
1  Division of Gastroenterology, St. Michael’s Hospital, University of Toronto, Toronto, Canada
,
C. M. Walsh
2  Division of Gastroenterology, Hepatology and Nutrition, the Research and Learning Institutes, Hospital for Sick Children, Department of Paediatrics and the Wilson Centre, University of Toronto, Toronto, Canada
,
S. Cohen
3  Pediatric Gastroenterology Unit of “Dana-Dwek” Children’s Hospital, Tel Aviv Sourasky Medical Center, affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
,
M. Aronson
4  Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Canada
,
U. Tabori
5  Division of Haematology and Oncology, Hepatology and Nutrition, Hospital for Sick Children, University of Toronto, Toronto, Canada
,
P. P. Kortan
1  Division of Gastroenterology, St. Michael’s Hospital, University of Toronto, Toronto, Canada
,
C. A. Durno
4  Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Canada
6  Division of Gastroenterology, Hepatology and Nutrition, Hospital for Sick Children, University of Toronto, Toronto, Canada
,
and the International BMMRD Consortium› Institutsangaben
Weitere Informationen

Publikationsverlauf

submitted 26. September 2017

accepted after revision 20. Februar 2018

Publikationsdatum:
10. August 2018 (online)

Abstract

Background and study aims Constitutional mismatch repair deficiency (CMMRD) syndrome, also known as biallelic mismatch repair deficiency (BMMRD) syndrome is a rare autosomal-recessive genetic disorder that has a high mortality due to malignancy in childhood and early adulthood. The small bowel phenotype in CMMRD is not well described and surveillance protocols for small bowel cancer have not been well established. This study was conducted to evaluate the usefulness and clinical impact of video capsule endoscopy (VCE) for small bowel surveillance.

Patients and methods We retrospectively reviewed the prospectively maintained International CMMRD Consortium database. Treating physicians were contacted and VCE report data were extracted using a standardized template.

Results Among 58 patients included in the database, 38 VCE reports were collected from 17 patients. Polypoid lesions were first detected on VCE at a median age of 14 years (range: 4 – 17). Of these, 39 % in 7 patients (15/38) showed large polypoid lesions (> 10 mm) or multiple polyps that prompted further investigations. Consequently, three patients were diagnosed with small bowel neoplasia including one patient with adenocarcinoma. Small bowel neoplasia and/or cancer were confirmed histologically in 35 % of the patients (6/17) who had capsule surveillance and the lesions in half of these patients were initially visualized on VCE. Multiple polyps were identified on eight VCEs that were completed on three patients. Ten VCEs (28 %) were incomplete due to slow bowel transit; none required capsule removal.

Conclusions Small bowel surveillance in patients with CMMRD should be initiated early in life. VCE has the potential to detect polyps; however, small bowel neoplasias are often proximal and can be missed, emphasizing the importance of concurrent surveillance with other modalities.

Meeting presentations Digestive Disease Week 2017 and World Congress of Pediatric Gastroenterology, Hepatology and Nutrition 2016.