Case Study

Comprehensive genomic profiling (CGP), including germline testing for cancer predisposition genes (CPGs), can be used in cancer treatment and prevention. Herein, we report a 6-year-old boy with rectal adenocarcinoma presenting with molecular features of MMR deficiency, including MSI-high and TMB-high status. We describe the workup for a possible CPS and his response to combination therapy with nivolumab and ipilimumab.

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