Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel <i>MLH1</i> Mutation to Neoadjuvant Pembrolizumab
We present a fascinating case of a 57-year-old male with a novel mutation in MLH1 (<i>MLH1:c.1288G > T, p.(Glu430*)</i>), who presented with two synchronous colonic tumours, initially deemed unresectable, and experienced a complete pathological response on neoadjuvant pembrolizumab. E...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-10-01
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| Series: | Current Oncology |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1718-7729/30/10/653 |
| _version_ | 1797574210580643840 |
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| author | Beatrice Preti Laila Schenkel Matthew Cecchini Tommaso Romagnoli Michael Susmoy Sanatani Karissa French Patrick Colquhoun Mark David Vincent |
| author_facet | Beatrice Preti Laila Schenkel Matthew Cecchini Tommaso Romagnoli Michael Susmoy Sanatani Karissa French Patrick Colquhoun Mark David Vincent |
| author_sort | Beatrice Preti |
| collection | DOAJ |
| description | We present a fascinating case of a 57-year-old male with a novel mutation in MLH1 (<i>MLH1:c.1288G > T, p.(Glu430*)</i>), 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. |
| first_indexed | 2024-03-10T21:19:44Z |
| format | Article |
| id | doaj.art-7222e6c01cc74e3fb4426add00812da2 |
| institution | Directory Open Access Journal |
| issn | 1198-0052 1718-7729 |
| language | English |
| last_indexed | 2024-03-10T21:19:44Z |
| publishDate | 2023-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Current Oncology |
| spelling | doaj.art-7222e6c01cc74e3fb4426add00812da22023-11-19T16:10:57ZengMDPI AGCurrent Oncology1198-00521718-77292023-10-0130109039904810.3390/curroncol30100653Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel <i>MLH1</i> Mutation to Neoadjuvant PembrolizumabBeatrice Preti0Laila Schenkel1Matthew Cecchini2Tommaso Romagnoli3Michael Susmoy Sanatani4Karissa French5Patrick Colquhoun6Mark David Vincent7Division of Medical Oncology, Department of Oncology, Western University, London, ON N6A 3K7, CanadaDivision of Molecular Diagnostics, Western University, London, ON N6A 3K7, CanadaDepartment of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, CanadaDepartment of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, CanadaDivision of Medical Oncology, Department of Oncology, Western University, London, ON N6A 3K7, CanadaTemerty Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A1, CanadaDepartment of Surgery, Western University, London, ON N6A 3K7, CanadaDivision of Medical Oncology, Department of Oncology, Western University, London, ON N6A 3K7, CanadaWe present a fascinating case of a 57-year-old male with a novel mutation in MLH1 (<i>MLH1:c.1288G > T, p.(Glu430*)</i>), 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.https://www.mdpi.com/1718-7729/30/10/653colon cancerMLH1immunotherapydMMRMSI-H |
| spellingShingle | Beatrice Preti Laila Schenkel Matthew Cecchini Tommaso Romagnoli Michael Susmoy Sanatani Karissa French Patrick Colquhoun Mark David Vincent Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel <i>MLH1</i> Mutation to Neoadjuvant Pembrolizumab Current Oncology colon cancer MLH1 immunotherapy dMMR MSI-H |
| title | Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel <i>MLH1</i> Mutation to Neoadjuvant Pembrolizumab |
| title_full | Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel <i>MLH1</i> Mutation to Neoadjuvant Pembrolizumab |
| title_fullStr | Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel <i>MLH1</i> Mutation to Neoadjuvant Pembrolizumab |
| title_full_unstemmed | Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel <i>MLH1</i> Mutation to Neoadjuvant Pembrolizumab |
| title_short | Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel <i>MLH1</i> Mutation to Neoadjuvant Pembrolizumab |
| title_sort | double duty complete pathologic response of two colonic primaries with mosaicism of a novel i mlh1 i mutation to neoadjuvant pembrolizumab |
| topic | colon cancer MLH1 immunotherapy dMMR MSI-H |
| url | https://www.mdpi.com/1718-7729/30/10/653 |
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