Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel MLH1 Mutation to Neoadjuvant Pembrolizumab

Author:

Preti Beatrice1ORCID,Schenkel Laila2ORCID,Cecchini Matthew3,Romagnoli Tommaso34,Sanatani Michael Susmoy1,French Karissa5,Colquhoun Patrick6,Vincent Mark David1

Affiliation:

1. Division of Medical Oncology, Department of Oncology, Western University, London, ON N6A 3K7, Canada

2. Division of Molecular Diagnostics, Western University, London, ON N6A 3K7, Canada

3. Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada

4. Schulich School of Medicine & Dentistry, Western University, London, ON N6A 3K7, Canada

5. Temerty Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A1, Canada

6. Department of Surgery, Western University, London, ON N6A 3K7, Canada

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.

Funder

This research received no external funding.

Publisher

MDPI AG

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