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Lynch Syndrome: Current management In 2019.

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Lynch Syndrome (LS) involves DNA repair mutations, increasing risks for colorectal cancer (CRC) and other tumors. Current guidelines emphasize regular endoscopic screening, not prophylactic colectomy, for managing LS patients.

Keywords:
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Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • Lynch Syndrome (LS) accounts for approximately 5% of colorectal cancers (CRCs) due to DNA repair system mutations.
  • LS is associated with a spectrum of cancers, including CRC, endometrial, urinary tract, small intestinal, ovarian, and others.

Purpose of the Study:

  • To update indications and surgical strategies for Lynch Syndrome patients.
  • To review current diagnostic criteria and screening recommendations for LS.

Main Methods:

  • Review of diagnostic criteria (Amsterdam I/II, Bethesda).
  • Analysis of current learned society recommendations for endoscopic screening and prophylactic surgery in LS.
  • Evaluation of advances in understanding LS prevalence and associated cancers.

Main Results:

  • LS diagnosis has evolved from Amsterdam Criteria to Bethesda Criteria.
  • Learned societies recommend early and regular endoscopic screening (every 1-2 years from age 25, annually from age 40 or 10 years prior to youngest family case).
  • No formal indication for prophylactic colectomy in LS; focus is on monitoring and managing associated cancers.

Conclusions:

  • Advances in understanding LS have improved CRC and associated cancer knowledge.
  • Enhanced endoscopic monitoring decreases CRC prevalence and mortality in LS patients.
  • Current strategies focus on surveillance and management rather than prophylactic surgery for LS.