Endoscopy 2020; 52(S 01): S119
DOI: 10.1055/s-0040-1704367
ESGE Days 2020 oral presentations
Saturday, April 25, 2020 11:00 – 13:00 Finders keepers Liffey Hall 1
© Georg Thieme Verlag KG Stuttgart · New York

INCIDENCE OF COLORECTAL NEOPLASIA AMONG YOUNG PATIENTS WITH LYNCH SYNDROME IN CORRELATION WITH THE TYPE OF MUTATION: RESULTS OF THE LARGEST PARIS AREA COHORT

E Coffin
1   Hopital Européen Georges Pompidou, Gastroenterology, Paris, France
,
C Lekhal
2   Hôpital Avicenne, Gastroenterology, Bobigny, France
,
G Perrod
1   Hopital Européen Georges Pompidou, Gastroenterology, Paris, France
,
E Samaha
1   Hopital Européen Georges Pompidou, Gastroenterology, Paris, France
,
E Perez Cuadrado
1   Hopital Européen Georges Pompidou, Gastroenterology, Paris, France
,
C Colas
3   Institut Curie, Genetics, Paris, France
,
M Dhooge
4   Hôpital Cochin, Gastroenterology, Paris, France
,
J Netter-Cotti
5   Hôpital Saint Antoine, Gastroenterology, Paris, France
,
O Caron
6   Institut Gustave Roussy, Genetics, Villejuif, France
,
V Cusin
7   Hôpital Pitié-Salpêtrière, Genetics, Paris, France
,
G Perkins
8   Hopital Européen Georges Pompidou, Genetics, Paris, France
,
A Zaanan
9   Hopital Européen Georges Pompidou, Oncology, Paris, France
,
B Buecher
3   Institut Curie, Genetics, Paris, France
,
J Bellanger
5   Hôpital Saint Antoine, Gastroenterology, Paris, France
,
Y Parc
10   Hôpital Saint Antoine, Surgery, Paris, France
,
D Malka
6   Institut Gustave Roussy, Genetics, Villejuif, France
,
S Chaussade
4   Hôpital Cochin, Gastroenterology, Paris, France
,
P Laurent Puig
8   Hopital Européen Georges Pompidou, Genetics, Paris, France
,
R Benamouzig
2   Hôpital Avicenne, Gastroenterology, Bobigny, France
,
C Cellier
11   Hopital Européen Georges Pompidou, Paris, France
› Author Affiliations
Further Information

Publication History

Publication Date:
23 April 2020 (online)

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Aims International guidelines recommend colorectal cancer (CRC) screening in patients with Lynch Syndrome, starting from 20-25 years-old except for MSH6 and PMS2 where the screening should start at 35 years-old.

Methods This is an observational analytical study. All consecutive patients under 50 years-old followed within the PRED-IdF network with a proven germline mutation were included between 2010 and 2019. Demographics, type of mutation and endoscopic data were collected. To assess the age of primary colorectal event, we defined “colorectal neoplasia” (CN) as the detection of any of the following events: CRC, adenoma and/or sessile serrated lesion (SSL). Factors associated to CN were assessed by Cox regression survival analysis.

Results Seven hundred and eight patients (median age: 35 [15-50] years, male ratio 0.7) underwent 2429 colonoscopies during a median follow-up of 55 [0-350] months. They presented with the following mutations: MLH1 (33.5%), MSH2 (45.6%), MSH6 (15.3%), PMS2 (4.2%) and EPCAM (1.4%).

The quality of colonoscopy preparation was good in 73.5% of cases. Chromo-endoscopy by indigo carmin was performed in 72.7% of cases.

The global incidence of CN, CRC, adenoma and SSL were respectively of 53%, 22.9%, 37.9% and 6.6%. For patients with MSH6 mutation, the age at first CN was significantly older than for other mutations (p=0.038). Among these, we reported that 25% of CN occurred before 35 years-old, including 7 adenomas including,1 advanced adenoma, 1 serrated adenoma and 5 CRC.

Overall, by multivariable analysis, age (HR: 1,038, CI95%: 1.026-1.116), male sex (HR: 1.460, CI95% [1.017-1.061]), and tobacco use (HR: 1.672 CI95%: 1.252-2.233), were associated with a higher incidence of CN.

Conclusions In this PRED-IdF study, MSH6 mutation and demographic factors were associated with a delayed CN development. However, we report CN in MSH6 carriers before the age of 35 years, which may limit the application of recent guidelines.