Familial Cancer

, Volume 5, Issue 4, pp 373–378

What is the appropriate screening protocol in Lynch syndrome?

  • A. E. de Jong
  • F. M. Nagengast
  • J. H. Kleibeuker
  • P. C. van de Meeberg
  • H. J. van Wijk
  • A. Cats
  • G. Griffioen
  • H. F. A. Vasen
Original Paper

DOI: 10.1007/s10689-006-0008-6

Cite this article as:
de Jong, A.E., Nagengast, F.M., Kleibeuker, J.H. et al. Familial Cancer (2006) 5: 373. doi:10.1007/s10689-006-0008-6

Abstract

Introduction

Lynch syndrome families have a substantial risk of developing colorectal cancer (CRC). The recommended surveillance protocol includes colonoscopy every 2 years from age 20–25 years. It is yet unknown whether annual screening of patients aged 40–60 years is more effective than bi-annual screening, whether patients who had an adenoma removed should be re-examined after a year and whether surveillance of second-degree relatives is indicated. The aim of this study was to address these issues.

Methods

All carriers of a mismatch repair gene mutation who participated in the surveillance program were selected from the Dutch Lynch syndrome registry. The results of colonoscopy were prospectively collected.

Results

A total of 666 mutation carriers were identified in 110 families. Fourty-one CRCs were detected during endoscopic follow-up, of which 34 (83%) were diagnosed between age 40 and 60 years. In five of 34 patients, CRC was diagnosed within 1 year after colonoscopy, eight cancers were diagnosed between 1 and 2 years and the remaining tumors more than 2 years after colonoscopy. All eight CRCs detected between 1 and 2 years were at local stage.

At least one adenoma was diagnosed at 141 examinations. The risk of developing CRC during follow-up in carriers with an adenoma was similar as in carriers without an adenoma at the previous colonoscopy. 280 parent–child couples with at least one Lynch syndrome-related carcinoma were identified in 110 families. In only 19 (6.8%) of these couples, CRC developed earlier in the child than an Lynch syndrome-associated cancer in the parent.

Conclusion

The current surveillance protocol, i.e., bi-annual colonoscopy in first-degree relatives independent of age and endoscopic findings, appears to be appropriate.

Keywords

Colorectal Cancer Lynch syndrome Surveillance protocol 

Abbreviations

HNPCC

Hereditary NonPolyposis Colorectal Cancer

MMR

MisMatch Repair

CRC

Colorectal Cancer

Copyright information

© Springer Science+Business Media B.V. 2006

Authors and Affiliations

  • A. E. de Jong
    • 1
    • 2
  • F. M. Nagengast
    • 3
  • J. H. Kleibeuker
    • 4
  • P. C. van de Meeberg
    • 5
  • H. J. van Wijk
    • 6
  • A. Cats
    • 7
  • G. Griffioen
    • 2
  • H. F. A. Vasen
    • 1
    • 2
  1. 1.The Netherlands Foundation for the Detection of Hereditary TumoursLeiden University Medical CenterLeidenThe Netherlands
  2. 2.Department of GastroenterologyLeiden University Medical CenterLeidenThe Netherlands
  3. 3.University Medical Center NijmegenNijmegenThe Netherlands
  4. 4.University Medical Center GroningenUniversity of GroningenGroningenThe Netherlands
  5. 5.Hospital Slingeland DoetinchemDoetinchemThe Netherlands
  6. 6.Maxima Medical Center EindhovenEindhovenThe Netherlands
  7. 7.The Netherlands Cancer InstituteAmsterdamThe Netherlands

Personalised recommendations