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Adult intussusception is rare, accounting for ~1% of intestinal obstruction cases, and most cases are caused by neoplastic lesions. This report describes a 30-year-old male patient with a solitary Peutz-Jeghers syndrome hamartomatous polyp that mimicked colon cancer preoperatively. The patient had no mucocutaneous pigmentation, family history of polyposis or malignancy, and no STK11/LKB1 mutation. Whole-exome sequencing identified two novel heterozygous variants in POLE and EXO1. Intraoperative exploration of the terminal ileum is critical to avoid misdiagnosis and unnecessary colectomy.
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Liu et al. (2026) studied this question.
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