Why is early detection of Lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer) important in clinical practice?

From the Guidelines

Early detection of Lynch syndrome is crucial in clinical practice because it significantly reduces morbidity and mortality by enabling targeted cancer surveillance and prevention strategies. Lynch syndrome is an inherited condition that increases the risk of colorectal cancer, endometrial cancer, and several other malignancies at younger ages than in the general population 1. Identifying affected individuals enables implementation of enhanced screening protocols, such as colonoscopies beginning at age 20-25 and repeated every 1-2 years, rather than starting at age 45-50 as recommended for average-risk individuals. Key points to consider include:

• The use of annual history, physical examination, and patient and family education starting at 20-25 years old, as recommended by expert opinion 1
• The effectiveness of colorectal screening in decreasing CRC mortality, with studies showing a 65% reduction in CRC deaths in individuals who underwent colonoscopic surveillance compared to those who refused 1
• The importance of frequent colonoscopy screening, with at least every 2-year colonoscopic surveillance of LS patients supported by the data 1
• The potential for early detection to inform surgical decisions, such as considering more extensive colonic resection or prophylactic hysterectomy and bilateral salpingo-oophorectomy in affected individuals. Some of the key benefits of early detection of Lynch syndrome include:
• Reduced risk of colorectal cancer and other associated malignancies
• Improved survival rates through early diagnosis and treatment
• Enhanced quality of life through targeted surveillance and prevention strategies
• The potential to identify multiple at-risk family members through cascade genetic testing, allowing for increased surveillance and prevention efforts.

From the Research

Importance of Early Detection of Lynch Syndrome

• Early detection of Lynch syndrome is crucial in clinical practice due to its association with a high lifetime risk of developing various types of cancer, including colorectal and endometrial cancer 2, 3, 4, 5, 6.
• Screening for colorectal cancer in Lynch syndrome enables early detection and likely cancer prevention, reducing CRC-related mortality 2.
• Regular screening for Lynch syndrome can prevent and facilitate early diagnosis of cancers, improving patient outcomes 4.
• A coordinated multidisciplinary approach is required for the lifelong care of affected individuals and their families, including high-quality colonoscopy, prophylactic gynaecological surgery, and aspirin to prevent and facilitate early diagnosis of cancers 4.

Benefits of Early Detection

• Early detection of Lynch syndrome allows for the initiation of special monitoring, adapted to estimated cancer risk, which can help prevent or detect cancers at an early stage 5.
• Identification of Lynch syndrome can also lead to the detection of other family members who may be at risk, allowing for early intervention and prevention of cancers 5.
• The use of universal screening approaches, such as microsatellite instability testing and/or immunohistochemical testing, can help identify patients who would benefit from genetic counseling and germline testing 6.

Current Challenges and Future Perspectives

• Despite the importance of early detection, Lynch syndrome remains underdiagnosed in the population, highlighting the need for increased awareness and adoption of screening programs 3.
• There is a need for standardized international guidelines to standardize Lynch syndrome high-risk clinics and ensure consistent screening and management practices 6.
• Ongoing research and advances in diagnostic and therapeutic approaches, including immunotherapy and anti-cancer vaccines, offer promising opportunities for improved management and treatment of Lynch syndrome-associated cancers 3, 4.