KEY TAKEAWAYS
- The study aimed to investigate the genetic mutations in MSI-H CRC and their association with immunotherapy efficacy.
- The primary endpoints were to determine ORR and PFS.
- Researchers noticed that specific MMR gene mutations in MSI-H CRC are associated with improved immunotherapy outcomes; further investigation is ongoing.
Microsatellite instability-high (MSI-H) colorectal cancer (CRC) is known for its heightened responsiveness to immunotherapy. However, establishing robust predictive markers for immunotherapy efficacy remains imperative.
Ying Liu and the team aimed to elucidate the genetic landscape of MSI-H CRC and correlate these genetic alterations with immunotherapy outcomes in a cohort of 121 patients.
They performed an inclusive analysis of clinical and molecular data from 121 patients with MSI-H CRC and a thorough genetic analysis of patients with MSI-H CRC, with a specific emphasis on the APC, TP53, RAS, and MMR genes. They further analyzed the relationship between gene mutations and immunotherapy efficacy. The primary endpoints analyzed were objective response rate (ORR) and progression-free survival (PFS). All statistical analyses were conducted using SPSS 26.0 and R 4.2.0 software.
They underscored the complexity of the genetic landscape in MSI-H CRC, shedding light on the intricate interplay of these genes in CRC development. Notably, mutations in MMR genes exhibited a distinctive pattern, providing insights into the underlying mechanisms of MSI-H. Furthermore, the results revealed correlations between specific genetic alterations and immunotherapy outcomes, with a particular focus on treatment response rates and progression-free survival.
The study concluded that the distinctive pattern of MMR gene mutations adds depth to the understanding of MSI-H CRC and hints at potential avenues for targeted therapies. This research sets the stage for future investigations aimed at refining therapeutic strategies and improving outcomes for patients with MSI-H CRC.
The study was sponsored by the National Natural Science Foundation of China.
Source: https://pubmed.ncbi.nlm.nih.gov/38746969/
Liu Y, Cui K, Ma W, (2024). “Gene mutation profiling in microsatellite instability colorectal cancer and its association with the efficacy of immunotherapy: A retrospective study.” Cancer Med. 2024 May;13(9):e6910. doi: 10.1002/cam4.6910. PMID: 38746969; PMCID: PMC11094515.
