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Diagnosis and Management of Lynch Syndrome

Hajirawala, Luv, M.D., M.S.1; Barton, Jeffrey S., M.D.2

Diseases of the Colon & Rectum: April 2019 - Volume 62 - Issue 4 - p 403–405
doi: 10.1097/DCR.0000000000001345
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Case Summary: A 56-year-old man with a history of hypertension and hyperlipidemia was referred by gastroenterology for bleeding per rectum. Because of a family history of colon cancer, he had several prior colonoscopies, most recently 3 years ago, without evidence of pathology. His mother was diagnosed with colon cancer in her mid-40s. His current colonoscopy demonstrated a 2.4 × 1.5 cm cecal adenocarcinoma. Staging workup revealed no evidence of metastatic disease. Because of the patient’s family history, the specimen was further evaluated and found to have high microsatellite instability (MSI-H). The patient was referred to a genetic counselor and found to have a germline pathogenic variant in MSH6 on gene panel testing. The patient did not have a family history of any extracolonic malignancies.

The patient underwent an uncomplicated laparoscopic total abdominal colectomy with ileorectal anastomosis, which revealed a T2N0Mx adenocarcinoma with abundant peritumoral lymphocytes. He was discharged on postoperative day 2, and recuperated appropriately from surgery. Follow-up surveillance proctoscopy showed no evidence of disease. His sole offspring, a 25-year-old man, was negative for a pathogenic variant in MSH6 and had no polyps on colonoscopy. His siblings did demonstrate a pathogenic variant in MSH6 and are currently opting for annual surveillance colonoscopy.

1 Department of Surgery, Louisiana State University Health Sciences Center, New Orleans, Louisiana

2 Section of Colorectal Surgery, Department of Surgery, Louisiana State University Health Sciences Center, New Orleans, Louisiana

Earn Continuing Education (CME) credit online at cme.lww.com. This activity has been approved for AMA PRA Category 1 Credit.TM

Funding/Support: None reported.

Financial Disclosure: None reported.

Correspondence: Luv Hajirawala, M.D., M.S., LSU New Orleans Department of Surgery, 1542 Tulane Ave, 7th Flr, New Orleans, LA 70112. E-mail: lhajir@lsuhsc.edu

© 2019 The American Society of Colon and Rectal Surgeons