We present a fascinating case of a 57-year-old male with a novel mutation in MLH1 (), who presented with two synchronous colonic tumours, initially deemed unresectable, and experienced a complete pathological response on neoadjuvant pembrolizumab. Extensive genetic testing revealed post-zygotic mosaicism from the novel mutation.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605803 | PMC |
| http://dx.doi.org/10.3390/curroncol30100653 | DOI Listing |
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