Surveillance

Australian Guidelines

Lynch syndrome cancers may be more aggressive and often occur at an earlier age than in the general population. It is therefore essential for individuals with Lynch syndrome to follow a targeted surveillance regime. General practitioners and practice nurses can play a key part in assisting patients with Lynch syndrome co-ordinate their surveillance regime.

In Australia, the NSW Cancer Institute produce evidence based cancer treatment protocols for Lynch syndrome. The EviQ guidelines can be found at http://www.eviq.org.au/ . These guidelines are updated every 2 years as a minimum or more frequently if there are major updates in evidence. Some GPs keep this as a file note to review.

Current Recommendations

Annual colonoscopy is recommended from age 25 (MLH1 or MSH2 gene mutation) or age 30 (MSH6 or PMS2 gene mutation), or 5 years younger than youngest CRC affected relative;

Prophylactic total abdominal hysterectomy with bilateral salpingo-oophorectomy (TAH-BSO) is to be considered after childbearing is complete or by 40 years of age.

Monitoring the Lynch Syndrome Australia’s health professionals section on this website for updated surveillance regimes regularly is likely to be helpful and is strongly encouraged. Enrolment to the state Hereditary Cancer Registry is strongly advised, as they provide a screening reminder service as well as other information and services.

A patient’s Perspective

At 28, Lydia* has had more than her share of Lynch syndrome worry and loss.

And she is worrying today. The South Australian healthcare worker is currently considering a move back to her hometown, 600 km away, “So that I can be closer to my sister and my dad.” For the past four years, Lydia has been an intrinsic part of both her younger sister’s and her mother’s repeated battles with bowel cancer, pancreatic, and ureteric cancer, after they were simultaneously diagnosed with Lynch syndrome in 2012. Lydia later decided to be tested for the gene fault in 2014.

“My little sister was tested for Lynch syndrome after being diagnosed with bowel cancer at 21 years of age. By the time her gene test results came through six months later, she had been diagnosed with yet another primary cancer, this time pancreatic cancer. Only then did we join the dots to other family members,” explains Lydia.

“If our GP had only taken a cancer family history, then we could have been on the look-out….

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Cancer risk for Lynch syndrome carriers is also influenced by familial and environmental factors (e.g., some families have extraordinarily high rates of particular Lynch syndrome cancers). Indeed, surveillance recommendations have changed extensively since the first Lynch syndrome patients were identified. A patient’s surveillance regime must therefore be considered, in conjunction with a patient’s family history of cancer, environmental factors and continually evolving Australian and global best practice. Family Cancer Clinics provide evidence based and personalised risk estimates and screening advice.

International recommendations for best practice may be considered where the patient’s family history or other factors are relevant. These include:

  • Gastric cancers: Biennial upper GI endoscopy from age 30
  • Renal cancers: Urine cytology with or without urinalysis starting at age 30 -36

A diagnosis of Lynch syndrome may affect childbearing decisions. A referral to a fertility specialist for discussions on predictive testing and assisted conception may also be required.

A patient’s gene variant may affect their cancer risk and subsequent surveillance regime. Please see the following risk tool developed by two leading groups of international researchers (The European Mallorca Group of researchers specialising in hereditary tumours and the International Society for Gastrointestinal Hereditary Tumours (InSiGHT).

Cancer Risk Tool