Peutz-Jeghers Syndrome: A Circumventable Emergency

Area of Science:

• Gastroenterology
• Oncology
• Pathology

Background:

• Peutz-Jeghers syndrome (PJS) is an inherited disorder characterized by hamartomatous polyps in the GI tract and mucocutaneous pigmentation.
• PJS significantly increases the risk of various gastrointestinal and non-gastrointestinal cancers.

Purpose of the Study:

• To report a rare case of colonic Mucosa-Associated Lymphoid Tissue Lymphoma (MALToma) in a patient with Peutz-Jeghers syndrome.
• To discuss the unique clinicopathological presentation and implications of this co-occurrence.

Main Methods:

• Case presentation of a 22-year-old male with PJS.
• Surgical resection of intestinal segments for obstruction and a colonic mass.
• Histopathological examination and immunohistochemistry for diagnosis.

Main Results:

• The patient presented with ileocolic intussusception secondary to PJS-related polyps.
• A transverse colonic mass was diagnosed as MALToma upon histological examination.
• This represents a unique reported instance of colonic MALToma in the context of PJS.

Conclusions:

• Peutz-Jeghers syndrome carries a risk of diverse gastrointestinal pathologies beyond hamartomatous polyps.
• The co-occurrence of colonic MALToma and PJS is exceptionally rare and warrants further investigation.
• This case underscores the importance of vigilant surveillance in PJS patients.