Molecular surveillance-informed personalized multidisciplinary therapy achieves prolonged survival in a patient with Lynch syndrome-associated colorectal cancer: A case report.

BACKGROUND

Lynch syndrome (LS), an autosomal dominant genetic disorder, is distinguished by germline mutations in the DNA mismatch repair genes, including . These mutations confer an elevated risk for the development of colorectal cancer (CRC) and an array of other malignancies. Timely detection, facilitated by genetic profiling and stringent molecular surveillance, is crucial. It enables the implementation of customized therapeutic strategies, which have the potential to markedly enhance patient outcomes. Despite its significant public health impact, LS is frequently underdiagnosed, underscoring the necessity for increased vigilance and the adoption of precision medicine tactics.

CASE SUMMARY

This case presentation focuses on a 54-year-old male patient with a strong familial predisposition to colon cancer, who was identified to have LS-associated multiple colorectal neoplasms. Utilizing a comprehensive, multidisciplinary therapeutic strategy that encompassed precision medicine, immunotherapy with pembrolizumab, and stringent molecular residual disease monitoring, we effectively managed his advanced CRC. This tailored approach led to the achievement of sustained clinical remission exceeding 30 months, illustrating the promise of personalized treatment protocols in optimizing outcomes for individuals with LS and associated colorectal malignancies.

CONCLUSION

A synergistic, multidisciplinary approach is essential for managing LS-associated CRC, advocating for personalized care pathways in precision medicine.