POLE-Mutant Colon Cancer Treated with PD-1 Blockade Showing Clearance of Circulating Tumor DNA and Prolonged Disease-Free Interval
| Autor: | Mihir Bikhchandani, Farin Amersi, Andrew Hendifar, Alexandra Gangi, Arsen Osipov, Karen Zaghiyan, Katelyn Atkins, May Cho, Francesca Aguirre, Dennis Hazelett, Rocio Alvarez, Lisa Zhou, Megan Hitchins, Jun Gong |
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| Rok vydání: | 2023 |
| Předmět: |
MSS
high tumor mutation burden Programmed Cell Death 1 Receptor Circulating Tumor DNA Colo-Rectal Cancer Vaccine Related Neoplasm Recurrence checkpoint inhibitor Good Health and Well Being Local colon cancer Colonic Neoplasms Mutation POLE Genetics Humans Immunization immunotherapy Digestive Diseases Genetics (clinical) Cancer |
| Zdroj: | Genes, vol 14, iss 5 |
| ISSN: | 2073-4425 |
| DOI: | 10.3390/genes14051054 |
| Popis: | Colon cancer with high microsatellite instability is characterized by a high tumor mutational burden and responds well to immunotherapy. Mutations in polymerase ɛ, a DNA polymerase involved in DNA replication and repair, are also associated with an ultra-mutated phenotype. We describe a case where a patient with POLE-mutated and hypermutated recurrent colon cancer was treated with pembrolizumab. Treatment with immunotherapy in this patient also led to the clearance of circulating tumor DNA (ctDNA). ctDNA is beginning to emerge as a marker for minimal residual disease in many solid malignancies, including colon cancer. Its clearance with treatment suggests that the selection of pembrolizumab on the basis of identifying a POLE mutation on next-generation sequencing may increase disease-free survival in this patient. |
| Databáze: | OpenAIRE |
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