Stage III MSI-High Colorectal Cancer: Kelly's Survivor Story

Patient Info: Kelly, Female, Under 40 | Stage III

Biomarkers: dMMR; MSI-H

As of September 2023, Kelly remained in remission after 9 dostarlimab immunotherapy infusions for Stage III dMMR/MSI-H rectal cancer, avoiding the expected chemo/radiation/surgery pathway.

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A young man with metastatic rectal cancer and inherited BRCA1 and MLH1 mutations

Patient Info: Anonymized, Male, Under 40 | Stage IV

Biomarkers: Germline BRCA1 c.4065_4068delTCAA and MLH1 c.232G>T mutations; tumor microsatellite instability-high; loss of MLH1 and PMS2 expression; elevated tumor mutational burden; loss of heterozygosity of wild-type MLH1.

Metastatic Site: liver

The rectal and liver tumors showed a partial response, no viable carcinoma was found in the resected liver lesions, and maintenance nivolumab continued without evidence of growth or recurrence.

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MSI-High Malignant Struma Ovarii With Lung and Liver Metastases 17 Years Later

Patient Info: Anonymized, Female, 50s | Stage Metastatic/Advanced

Biomarkers: NRAS, and ATM mutations; Ki-67 approximately 15%–29%

Metastatic Site: lungs|liver

She remained asymptomatic and tolerated pembrolizumab without obvious adverse effects after 4 doses, with follow-up imaging planned for metastatic lung and liver disease.

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MSI-High Gastric Cancer With a Complete Response to Preoperative Nivolumab

Patient Info: Anonymized, Female, 60s

Biomarkers: MSI-high; PD-L1 expression in more than 1% of tumor cells; HER2 negative

Surgery found a complete pathologic response with no residual tumor cells and no cancer in 12 lymph nodes. At the time of reporting, she had no complaints and had returned to normal activities.

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Cancer Survivor Story: Colon Cancer (Lynch Syndrome)

Patient Info: Shannon, Female, Under 40 | Stage II

Biomarkers: Lynch syndrome; MSI-high / dMMR

As of May 2020, Shannon was considered cancer-free after surgery-only treatment for Stage IIA MSI-high/Lynch-associated colon cancer and remained on strict Lynch syndrome surveillance.

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Cecal cancer revealing Muir-Torre syndrome with an MSH2 mutation

Patient Info: Anonymized, female

Biomarkers: MSI-high; loss of MSH2 expression; truncating MSH2 mutation

A woman with multiple sebaceous tumors and a strong family history of colorectal cancer was found to have MSI-high cecal cancer and an MSH2 mutation consistent with Muir-Torre syndrome.

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