Peutz-Jeghers Type Polyp of the Appendix with Review of Literature

Area of Science:

• Gastroenterology
• Pathology
• Genetics

Background:

• Peutz-Jeghers type hamartomatous polyps are typically associated with Peutz-Jeghers polyposis syndrome.
• These polyps are predominantly found in the small intestine, with sporadic cases being uncommon.
• The appendix is an unusual location for hamartomatous polyps.

Observation:

• A polyp was incidentally discovered in the appendix of a patient during diagnostic imaging for hepatitis C.
• Histopathological examination revealed a polyp with characteristic features of a Peutz-Jeghers type hamartomatous polyp.
• The patient had no personal or family history of abdominal cancers, indicating a sporadic event.

Findings:

• The appendiceal polyp was morphologically indistinguishable from Peutz-Jeghers type hamartomatous polyps.
• Next-generation sequencing identified low-level pathogenic STK11 mutations, presumed to be somatic.
• This represents an unusual instance of a sporadic Peutz-Jeghers type polyp in the appendix.

Implications:

• This case expands the known anatomical distribution of sporadic Peutz-Jeghers type hamartomatous polyps.
• It highlights the importance of thorough histopathological evaluation, even in incidental findings.
• Further research may elucidate the genetic mechanisms underlying sporadic polyps in atypical locations.