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Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel MLH1 Mutation to
Beatrice Preti1, Laila Schenkel2, Matthew Cecchini3
1Division of Medical Oncology, Department of Oncology, Western University, London, ON N6A 3K7, Canada.
Current Oncology (Toronto, Ont.)
|October 27, 2023
Abstract:
We present a fascinating case of a 57-year-old male with a novel mutation in MLH1 (MLH1:c.1288G > T, p.(Glu430*)), 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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