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open access
May 13, 2016
Background: In the literature, pancreatic cancer is not frequently acknowledged among the tumors that are considered a part of Lynch Syndrome.
Today, the patient (dx'd at 29 years age) remains with no evidence of disease nearly 5 years after pancreatic cancer was diagnosed.
The patient had an interesting family history. Ovarian cancer and uterine cancer were diagnosed in his mother at the age of 37. Colon cancer was diagnosed in his maternal grandmother at the age of 39, and multiple basal cell and squamous cell cancers of the skin, lymphoma, and renal cell carcinoma during her lifetime. Ovarian cancer was diagnosed in his maternal aunt at the age of 37 and uterine cancer. This family history was suspicious for Lynch syndrome, and prompted us to test the tumor sample by IHC for the mismatch repair gene mutation. The test revealed a loss of MSH2, MSH6, and PMS2 by IHC and PCR showed microsatellite instability. Germline testing showed a mutation in MSH2, confirming Lynch syndrome.
Squamous cell skin carcinoma in Lynch Syndrome is not well studied - isolated case reports.
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