What is the recommended management for a patient with Lynch syndrome?

From the Guidelines

Patients with Lynch syndrome should undergo risk-reducing total hysterectomy and bilateral salpingo-oophorectomy no earlier than 35–40 years of age following completion of childbearing, in proven MLH1, MSH2, and MSH6 pathogenic variant carriers, as recommended by the Manchester International Consensus Group 1. This approach is based on the significantly increased lifetime risk of colorectal cancer (up to 80%), endometrial cancer (up to 60% in women), and elevated risks of ovarian, gastric, small bowel, urinary tract, and other cancers associated with Lynch syndrome.

Key Recommendations

• Regular surveillance with colonoscopy every 1-2 years beginning at age 20-25 (or 2-5 years before the earliest colorectal cancer diagnosis in the family) 1
• Annual endometrial sampling and transvaginal ultrasound starting at age 30-35 to screen for endometrial and ovarian cancers 1
• Consideration of daily aspirin (600 mg) which may reduce colorectal cancer risk, as supported by a high-quality randomized controlled trial 1
• Prophylactic hysterectomy and bilateral salpingo-oophorectomy after childbearing for women, with a strong recommendation for high-quality preoperative multidisciplinary counseling and patient-friendly written information regarding the risks and benefits of risk-reducing surgery 1

Additional Considerations

• Risk-reducing colectomy may be considered for patients with advanced adenomas not manageable by colonoscopy or for those who cannot undergo regular surveillance 1
• Women who undergo risk-reducing hysterectomy and removal of their ovaries should be offered estrogen-only hormone replacement therapy (HRT) until the natural age of the menopause (age 51 years) or, in consultation with their specialist, until they wish to stop 1
• A healthy lifestyle, including a healthy body mass index (BMI), a healthy diet, regular exercise, not smoking cigarettes, drinking alcohol in moderation or not at all, and avoiding known carcinogens, is recommended for women at risk of Lynch syndrome 1

From the Research

Management of Lynch Syndrome

The recommended management for a patient with Lynch syndrome includes:

• Regular surveillance for colorectal cancer, with colonoscopy every 1-3 years starting at age 20-25 years 2, 3
• Consideration of prophylactic hysterectomy and bilateral salpingo-oophorectomy (BSO) to reduce the risk of endometrial and ovarian cancer 4, 5
• Education and counseling on the risks and benefits of risk-reducing surgery, as well as the importance of adherence to recommended surveillance protocols 6

Surveillance Protocols

Surveillance protocols for Lynch syndrome may include:

• Colonoscopy every 1-3 years starting at age 20-25 years 2, 3
• Annual screening of patients aged 40-60 years may be more effective than bi-annual screening, but this is still unknown 3
• Re-examination after 1 year for patients who have had an adenoma removed 3
• Surveillance of second-degree relatives may be indicated, but this is still unknown 3

Risk-Reducing Surgery

Risk-reducing surgery, including hysterectomy and BSO, is currently recommended for women with Lynch syndrome once childbearing is complete 4, 5

• However, women with Lynch syndrome should be counseled that they may still be at risk for developing primary peritoneal cancer despite undergoing gynecologic cancer risk-reducing surgery 5

Patient and Provider Perspectives

Patients and primary care providers may face challenges in tracking and managing Lynch syndrome surveillance recommendations, including:

• Lack of routine communication from the health system 6
• Limited familiarity with surveillance recommendations among primary care providers 6
• Importance of a comprehensive and coordinated monitoring program to ensure patients receive recommended care 6