Colon Cancer in Her 30s Led to a Lynch Syndrome Diagnosis

Patient Info: Anonymized, Female

Biomarkers: Germline MSH2 c.2458+976A>G likely pathogenic deep intronic splice variant identified by concurrent DNA and RNA testing

Colon cancer and triple-negative breast cancer in a woman in her mid-30s prompted RNA testing that uncovered a deep intronic MSH2 Lynch syndrome variant.

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Colon cancer at age 27 in a man later diagnosed with Lynch syndrome

Patient Info: Anonymized, Male, Under 40

Biomarkers: Germline pathogenic MSH2 variant NM_000251.2:c.942+3A>T identified later

The first colon cancer remained disease-free after partial colectomy and adjuvant chemotherapy; years later, he died after decline from metastatic pheochromocytoma.

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A second colon cancer leading to a Lynch syndrome diagnosis

Patient Info: Anonymized, Male, 40s

Biomarkers: Complete loss of MSH2 and MSH6 nuclear staining in the cecal tumor; germline pathogenic MSH2 variant NM_000251.2:c.942+3A>T; Lynch syndrome.

The cecal cancer was treated with complete colectomy, while later presumed recurrences were ultimately identified as meningiomas and metastatic pheochromocytoma; he died after the pheochromocytoma progressed.

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Lynch syndrome-related colon cancer diagnosed at age 16

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

Biomarkers: Loss of MSH2 and MSH6 expression; pathogenic de novo germline MSH2 c.1786_1788delAAT; Lynch syndrome

Colonoscopic surveillance and abdominal imaging remained negative for recurrence through 48 months; recurrent narrowing at the anastomosis required balloon dilation, and she was otherwise doing well and attending college.

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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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Colon cancer and Lynch syndrome in a woman in her late 30s

Patient Info: Anonymized, Female

Biomarkers: Lynch syndrome confirmed by genetic testing

She was diagnosed with colon cancer in her late 30s and later died at age 39.

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