Diagnostic Challenges due to a Germline Missense MSH2 Variant in a Patient With Immunotherapy‐Responsive Locally Advanced Rectal Adenocarcinoma
Gertruda Evaristo, Carla Harmath, Jeremy P Segal, Ardaman Shergill, Namrata Setia · 2024
Read Diagnostic Challenges due to a Germline Missense MSH2 Variant in a Patient With Immunotherapy‐Responsive Locally Advanced Rectal Adenocarcinoma by Gertruda Evaristo, Carla Harmath, Jeremy P Segal, Ardaman Shergill, Namrata Setia (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11655914.txt.
Description
Evaristo and four colleagues report a hard diagnosis case in a young woman with rectal cancer in twenty twenty-four. Her tumor looked repair proficient on stains, which argued against a hereditary syndrome. Gene testing then found an inherited variant in a repair gene, first classed as unclear. Tumor DNA told a sharper story.
The tumor carried the same variant plus high mutation load and instability marks. A second gene change may explain the muted immune look. Immunotherapy followed and held the disease in check for nearly three years. The case backs layered testing when stains and genes disagree, the authors say.
Catalog record
| CREATOR | Gertruda Evaristo, Carla Harmath, Jeremy P Segal, Ardaman Shergill, Namrata Setia |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 20 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |