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Peutz-Jeghers Syndrome: A Circumventable Emergency

Sourav Choudhury1, Anupam Das2, Priyankar Misra3

  • 1Department of General Surgery, Medical College and Hospital, Kolkata, West Bengal, India.

Indian Journal of Dermatology
|April 26, 2018
PubMed

Insights

Peutz-Jeghers syndrome (PJS), a condition causing gastrointestinal polyps and pigmentation, can present with rare complications. This case highlights a unique instance of colonic MALToma occurring in a patient with PJS.

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.

Keywords:
Colonic Mucosa-Associated Lymphoid Tissue LymphomaPeutz–Jeghers syndromeintussusception

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