Diagnosis and management of Lynch syndrome

https://fg.bmj.com/content/13/e1/e80

A personalised approach to lifelong gene-specific management for people with LS provides many opportunities for cancer prevention and treatment.

What surveillance should these patients undergo?

  • Colonoscopic surveillance should be performed every 2 years starting at age 25 years for MLH1, or MSH2 pathogenic variant carriers, or age 35 years for MSH6, or PMS2 pathogenic variant carriers.
  • Endoscopic lesions can be difficult to recognise due to a high frequency of flat non-polypoid morphology, and high-quality colonoscopy is essential.
  • Gynaecological surveillance has no proven benefit.
  • Aspirin reduces long-term colorectal cancer (CRC) risk by approximately 50%. Recommended doses include 150 mg ODonce daily or 300 mg ODonce daily for patients with BMIbody mass index >30.

What surgical treatments are recommended?

  • Women should be counselled on prophylactic hysterectomy and bilateral salpingo-oopherectomy from age 40 years (MLH1, MSH2 and MSH6 variant carriers).
  • There is a gene-specific approach to surgical management of CRC which takes in to account other patient factors.

What systemic oncological treatments are recommended?

  • Chemoprophylaxis with daily aspirin for at least 2 years is recommended in patients <70 years old diagnosed with LS to reduce long-term CRC risk.
  • Personalised systemic anticancer therapy is feasible for locally advanced or metastatic disease associated with LS, and may respond very well to relatively novel checkpoint inhibition immunotherapy.

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