ScholarWorks@중앙대학교

초록

RATIONALE: Lynch syndrome is caused by germline mutations of DNA mismatch repair genes. A significant risk increase for several types of cancer is one of the characteristics of lynch syndrome. PATIENT CONCERNS: A 45-year-old female presented to the emergency department with abdominal pain that had persisted for a month. DIAGNOSES: The abdominal and pelvic computed tomography scan showed edematous and thickening of the proximal small bowel wall, as well as dilatation of the proximal bowel and stomach. INTERVENTIONS: Tumor resection of the small bowel was performed, and adenocarcinoma was confirmed pathologically. Microsatellite instability was also confirmed. OUTCOMES: Postoperative imaging revealed soft tissue lesions with potential for tumor seeding. Two months after the first surgery, a secondary surgery was performed as a result of cancer recurrence. The patient received chemotherapy with capecitabine. The latest computed tomography scan, performed 19 months after the cessation of chemotherapy, did not show any recurrence. LESSONS: In the rare incidence of small bowel cancer genetic mutation testing and detailed family history should be actively considered. Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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