Clinicopathologic comparison between sporadic and syndromic Peutz-Jeghers polyps

Area of Science:

• Gastroenterology
• Oncology
• Genetics

Background:

• Peutz-Jeghers polyps (PJPs) are hallmarks of Peutz-Jeghers syndrome (PJS), a rare genetic disorder associated with increased cancer risk.
• The clinical significance of isolated PJPs (1-2 polyps) in patients without other PJS stigmata remains unclear regarding their malignant potential and ability to identify new PJS cases.

Purpose of the Study:

• To compare the clinicopathologic features and neoplasia risk among patients with varying numbers of PJPs.
• To determine if sporadic PJPs (1-2 polyps) have malignant potential and if they can help identify PJS probands.

Main Methods:

• Histological confirmation and categorization of 524 PJPs from 112 patients into syndromic (≥3 PJPs or diagnosed PJS), solitary (1 PJP), and intermediate (2 PJPs) groups.
• Multivariate analysis comparing clinicopathologic features, including dysplasia and neoplasia development, between patient groups and on a per-polyp basis.

Main Results:

• Syndromic PJS patients were younger and had a higher risk of developing neoplasia compared to sporadic PJS patients.
• Sporadic PJPs were less likely to harbor dysplasia than syndromic PJPs, though dysplasia and metaplasia were more common in larger polyps.
• Strict PJS criteria (≥3 PJPs) effectively stratify patients by neoplasia risk, but sporadic PJPs with dysplasia suggest a potential 'forme fruste' PJS.

Conclusions:

• Current criteria for diagnosing Peutz-Jeghers syndrome (PJS) based on polyp number (≥3) effectively stratify patients regarding neoplasia risk.
• Sporadic Peutz-Jeghers polyps (PJPs), even when few, can exhibit dysplasia and metaplasia, highlighting their importance for diagnosis and potential identification of a milder PJS variant.