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Malignancy in Peutz-Jeghers syndrome? The pitfall of pseudo-invasion
A M Westerman1, M L van Velthuysen, D J Bac
1Department of Internal Medicine, Erasmus University, Rotterdam, The Netherlands.
Abstract:
Peutz-Jeghers syndrome is a malignancy-associated polyposis syndrome. We describe a histopathologic phenomenon easily encountered when examining the nature of Peutz-Jeghers polyps but that is underreported in the literature. This phenomenon of "pseudo-invasion" may mimic invasive carcinoma due to epithelial displacement and erroneously give the impression, both macroscopically and microscopically, that a malignancy is involved. This potential pitfall is illustrated by the case of a patient with Peutz-Jeghers syndrome who was thought to harbor a metastasizing adenocarcinoma in his small bowel with peritoneal metastasis as a perioperative finding. Histologic examination, however, revealed pseudo-invasion.
Insights
Peutz-Jeghers syndrome, a condition linked to cancer, can present with "pseudo-invasion" in polyps. This underreported finding mimics malignancy, potentially leading to misdiagnosis of invasive carcinoma.
Area of Science:
- Gastroenterology and Pathology
- Oncology
- Genetics
Background:
- Peutz-Jeghers syndrome (PJS) is an inherited disorder characterized by hamartomatous polyps in the gastrointestinal tract.
- PJS significantly increases the risk of various malignancies, including gastrointestinal cancers and others.
- Accurate histopathologic assessment of PJS polyps is crucial for patient management and risk stratification.
Observation:
- A specific histopathologic phenomenon, termed "pseudo-invasion," is frequently observed in Peutz-Jeghers polyps.
- Pseudo-invasion involves epithelial displacement within the polyp structure.
- This phenomenon can be mistaken for invasive carcinoma, both grossly and microscopically.
Findings:
- The study highlights the underreporting of pseudo-invasion in the literature concerning Peutz-Jeghers syndrome.
- A case is presented where pseudo-invasion in a PJS patient mimicked a metastasizing adenocarcinoma with peritoneal spread.
- Histologic examination ultimately confirmed pseudo-invasion, not true malignancy.
Implications:
- Recognizing pseudo-invasion is critical to avoid overdiagnosis and overtreatment of cancer in Peutz-Jeghers syndrome patients.
- This phenomenon represents a diagnostic pitfall in surgical pathology and gastroenterology.
- Improved awareness and reporting of pseudo-invasion can enhance diagnostic accuracy and patient outcomes in PJS.