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Peutz-jeghers syndrome with synchronous adenocarcinoma arising from ileal polyps
Mohit Sharma1, Rachhpal Singh2, Anumeet Singh Grover3
1Department of Surgery, Sri Guru Ramdass Institute of Medical Sciences and Research, 1843 New State Bank Colony, Race Course Road, Vallah, 143001 Amritsar, India.
Insights
Peutz-Jeghers syndrome, a rare inherited disorder, presents with characteristic pigmentation and gastrointestinal polyps. This case highlights a young male with Peutz-Jeghers syndrome who developed synchronous malignant small intestine polyps, a rare complication.
Area of Science:
- Gastroenterology
- Oncology
- Genetics
Background:
- Peutz-Jeghers syndrome (PJS) is an inherited autosomal disorder.
- PJS is characterized by mucocutaneous pigmentation and gastrointestinal hamartomatous polyps.
- Increased risk of gastrointestinal and non-gastrointestinal malignancies is associated with PJS.
Purpose of the Study:
- To report a rare case of Peutz-Jeghers syndrome with synchronous malignant small intestine polyps.
- To discuss the clinical presentation and management of such a rare complication.
Main Methods:
- Case report of a 29-year-old male with Peutz-Jeghers syndrome.
- Diagnostic imaging including CT scan.
- Endoscopic evaluation and polyp biopsy.
- Histopathological examination of resected polyps.
Main Results:
- The patient presented with recurrent abdominal pain due to an obstructing ileal polyp.
- CT scan and preoperative endoscopy revealed multiple small and large polyps in the ileum and jejunum.
- Histopathology confirmed mucinous adenocarcinoma in two ileal polyps and hamartomatous polyps in other locations.
- Synchronous malignant transformation in small intestinal polyps within the context of PJS was observed.
Conclusions:
- Peutz-Jeghers syndrome carries a significant risk of malignant transformation in gastrointestinal polyps.
- Synchronous malignant small intestinal polyps in PJS are exceedingly rare.
- Early diagnosis and vigilant endoscopic surveillance are crucial for managing PJS patients.
Abstract:
Peutz-Jeghers syndrome is a rare inherited autosomal disease characterized by mucocutaneous pigmentation and multiple polyps in the gastrointestinal tract. The clinical picture is characterized by repeated episodes of polyp-induced intestinal obstruction, abdominal pain, and bleeding per rectum. Predisposition to both gastrointestinal and nongastrointestinal malignancies is increased in a patient with Peutz-Jeghers syndrome. This is a case report of a 29-year-old male with Peutz-Jeghers syndrome who presented with a complaint of recurrent abdominal pain. CT scan revealed a single obstructing ileal polyp. However, preoperatively, another large ileal polyp with multiple small jejunal polyps was seen. Histopathology of both ileal polyps was identified as a mucinous adenocarcinoma infiltrating up to the serosa. The follow-up endoscopies showed small multiple polyps in the stomach, duodenum, and colon. Histopathology of all endoscopically removed polyps was consistent with the diagnosis of hamartomatous polyps. Very few cases of intestinal intussusception combined with synchronous malignant small intestine polyps have been reported until to date.
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