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

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 te...

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Detalles Bibliográficos
Autores principales: Preti, Beatrice, Schenkel, Laila, Cecchini, Matthew, Romagnoli, Tommaso, Sanatani, Michael Susmoy, French, Karissa, Colquhoun, Patrick, Vincent, Mark David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605803/
https://www.ncbi.nlm.nih.gov/pubmed/37887553
http://dx.doi.org/10.3390/curroncol30100653
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author Preti, Beatrice
Schenkel, Laila
Cecchini, Matthew
Romagnoli, Tommaso
Sanatani, Michael Susmoy
French, Karissa
Colquhoun, Patrick
Vincent, Mark David
author_facet Preti, Beatrice
Schenkel, Laila
Cecchini, Matthew
Romagnoli, Tommaso
Sanatani, Michael Susmoy
French, Karissa
Colquhoun, Patrick
Vincent, Mark David
author_sort Preti, Beatrice
collection PubMed
description 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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spelling pubmed-106058032023-10-28 Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel MLH1 Mutation to Neoadjuvant Pembrolizumab Preti, Beatrice Schenkel, Laila Cecchini, Matthew Romagnoli, Tommaso Sanatani, Michael Susmoy French, Karissa Colquhoun, Patrick Vincent, Mark David Curr Oncol Case Report 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. MDPI 2023-10-06 /pmc/articles/PMC10605803/ /pubmed/37887553 http://dx.doi.org/10.3390/curroncol30100653 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Preti, Beatrice
Schenkel, Laila
Cecchini, Matthew
Romagnoli, Tommaso
Sanatani, Michael Susmoy
French, Karissa
Colquhoun, Patrick
Vincent, Mark David
Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel MLH1 Mutation to Neoadjuvant Pembrolizumab
title Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel MLH1 Mutation to Neoadjuvant Pembrolizumab
title_full Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel MLH1 Mutation to Neoadjuvant Pembrolizumab
title_fullStr Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel MLH1 Mutation to Neoadjuvant Pembrolizumab
title_full_unstemmed Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel MLH1 Mutation to Neoadjuvant Pembrolizumab
title_short Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel MLH1 Mutation to Neoadjuvant Pembrolizumab
title_sort double duty: complete pathologic response of two colonic primaries with mosaicism of a novel mlh1 mutation to neoadjuvant pembrolizumab
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605803/
https://www.ncbi.nlm.nih.gov/pubmed/37887553
http://dx.doi.org/10.3390/curroncol30100653
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