- A 47-year-old male presented to the doctor with abdominal pain and anemia
- He has a family history of cancer:
- His brother was diagnosed with colon cancer at age 44
- His sister was diagnosed with gastric cancer at age 24, and mother was diagnosed with endometrial cancer at age 50
- He has 2 children, a 15-year old boy and a 10-year old girl
- Initial lab evaluations showed anemia (Hb 8.0 g/dL) and elevated carcinoembryonic antigen (980 ng/ml)
- CT-scan showed a large mass in the ascending colon and diffuse liver nodules
- Biopsy results showed a moderately differentiated adenocarcinoma
- Microsatellite instability (MSI) testing revealed MSI-high (MSI-H) tumor and IHC confirmed the absence of expression of the MLH1 protein
- He was referred for genetic testing
- The patient was diagnosed with hereditary nonpolyposis colorectal cancer syndrome