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Endoscopic surveillance for colorectal cancer and its precursor lesions in Lynch syndrome; time for some policy shifts?

  • 0Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands.
Hereditary Cancer in Clinical Practice +

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April 16, 2025

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April 16, 2025

View abstract on PubMed

Summary

This summary is machine-generated.

Individuals with Lynch Syndrome (LS) and specific gene variants (MLH1/MSH2 vs. MSH6/PMS2) show different colorectal cancer (CRC) risks. Tailored surveillance and less invasive treatments for early-stage CRC may be possible.

Area Of Science

  • Genetics and Genomics
  • Oncology
  • Gastroenterology

Background

  • Colorectal cancer (CRC) incidence varies among Lynch Syndrome (LS) carriers with different germline pathogenic variants (gPVs).
  • Limited data exist on tailoring surveillance and treatment strategies based on specific LS gPVs (MLH1, MSH2, MSH6, PMS2).
  • Investigating personalized care and outcomes for early-stage (T1) CRC in LS patients.

Purpose Of The Study

  • To estimate the potential for personalized care in LS patients based on distinct gPVs.
  • To analyze differences in CRC and precursor lesion incidence among LS gPV carriers.
  • To evaluate treatment variations and outcomes for early-stage CRC in LS patients.

Main Methods

  • Single-center retrospective analysis of LS patients with gPVs in MLH1, MSH2, MSH6, or PMS2.
  • Collection of colon surveillance data from 1978 to 2024.
  • Analysis of precursor lesion and CRC incidence, and CRC treatment variations by gPV.

Main Results

  • Individuals with MLH1 or MSH2 gPVs had higher CRC incidence than those with MSH6 or PMS2 gPVs, despite adequate surveillance.
  • Most detected CRCs were early-stage (T1).
  • Treatment for T1 CRC varied, with 68% deviating from subtotal colectomy, showing similar recurrence rates.

Conclusions

  • Extended surveillance intervals may be suitable for LS patients with MSH6 or PMS2 gPVs due to lower CRC incidence.
  • Less invasive interventions for T1 CRC in selected LS patients could be considered, given varied treatments and similar recurrence rates.

Keywords:

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