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Small bowel intussusception and concurrent sigmoid polyp with malignant transformation in Peutz-Jeghers syndrome
Maidah Algarni1, Enas Raml1, Nora Trabulsi1
1Department of General Surgery, King Abdulaziz University, Saudi Arabia.
Insights
Peutz-Jeghers syndrome (PJS) patients face risks of intussusception and cancer. This case highlights a rare instance of jejunal intussusception caused by a malignant polyp, alongside an incidentally discovered sigmoid colon malignant hamartoma.
Area of Science:
- Gastroenterology
- Oncology
- Genetics
Background:
- Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
- PJS is characterized by gastrointestinal polyposis, mucocutaneous pigmentation, and increased cancer risk.
- Intussusception and malignant polyps are known complications of PJS.
Observation:
- This report details a PJS patient with symptomatic jejunal intussusception.
- A malignant hamartoma in the sigmoid colon was incidentally discovered during evaluation.
- Malignant polyps causing intussusception with synchronous malignant polyps are exceedingly rare in PJS.
Findings:
- The patient presented with jejunal intussusception.
- A separate malignant hamartoma was found in the sigmoid colon.
- This case represents a rare presentation of PJS complications.
Implications:
- This case underscores the importance of vigilant surveillance in PJS patients.
- Early detection and management of malignant polyps are crucial for improved outcomes.
- Understanding rare presentations aids in refining diagnostic and therapeutic strategies for PJS.
Abstract:
Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition characterized by the association of gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition McGarrity, Amos, Baker (Peutz-Jeghers Syndrome, GeneReviews(R), National Center of Biotechnology Information.). Intussusception and malignant polyps are not rare complications of PJS, where the lifetime risk of intussusception is 48% and the possibility of developing any cancer by age 65 years is 37% Kopacova, Tacheci, Rejchrt, Bures (Peutz-Jeghers syndrome: diagnostic and therapeutic approach. World J Gastroenterol 2009;15:5397-408.). Very few cases of malignant polyps causing intussusception associated with synchronous malignant polyp in PJS have been reported to date Cai, Tian, Zhou, He, Hu, Deng (Jejunal intussusception and polyps with different types of malignant transformation in Peutz-Jeghers syndrome: report of a case. Oncol Lett 2013;5:239-41.). We describe a case of a patient with PJS presenting with symptomatic jejunal intussusception and an incidentally found malignant hamartoma in the sigmoid colon.
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