Mount Sinai Beth Israel Medical Center New York, NY
Rifat Mamun, MD1, Ilan Weisberg, MD, MSc2; 1Mount Sinai Beth Israel Medical Center, New York, NY; 2Mount Sinai Beth Israel Hospital, New York, NY
Introduction: Patients with Lynch Synrome have well established germline mutations in DNA mismatch repair genes that put them at higher risk for the development of multiple different types of malignancy. Risk of development of colorectal cancer is probably the most well described followed by associations with endometrial, stomach, renal pelvis, brain, skin, amongst others. Current guidelines recommend screening based on probability of these malignancies.
Methods: A 34 year old male known to carry the mutation for Lynch Syndrome was admitted with generalized fatigue. The patient reported feeling progressively worse and described associated symptoms of pruritus, dark urine and light colored stools. As part of his surveillance for Lynch Syndrome, he undergoes a colonoscopy every 2 years and an EGD every 4 years; both of which were recently normal. He otherwise has no other past medical history and takes no medications. Exam notable for normal vital signs, scleral icterus and jaundice. Labs significant for AST 112 IU/L, ALT 299 IU/L, ALP 137 IU/L, total bilirubin 8.3 mg/dL, direct bilirubin 5.4 mg/dL. A CT scan showed moderate intra and extra hepatic biliary ductal dilatation, pancreatic ductal dilatation, and an ampullary lesion. Ampullary mass seen and biopsied via ERCP, pathology showing moderately differentiated adenocarcinoma of pacnreatobiliary type. He was treated with Whipple surgery and FOLFIRINOX chemotherapy regimen. Discussion: Lynch Syndrome is diagnosed in patients and families with germline mutations in DNA mismatch repair genes. This mutation puts patients at much higher risk of developing multiple types of cancer. Our case describes a patient with pancreatobiliary type adenocarcinoma of the ampulla. Small intestinal cancer is thought to affect a small population of patients with Lynch syndrome (anywhere from 0.4-12%) and society guidelines differ on appropriate screening with some recommending periodic capsule endoscopy. Routine screening for pancreatic cancer is only recommended in patients and families with Lynch syndrome who have a family member or members diagnosed with pancreatic disease. As patients with Lynch Syndrome are at risk for malignancy in virtually any location, data on less common presentations and development of noninvasive testing will be more and more valuable.
Disclosures: Rifat Mamun indicated no relevant financial relationships. Ilan Weisberg indicated no relevant financial relationships.