Hamartomatous polyposis syndrome associated malignancies: Risk, pathogenesis and endoscopic surveillance

Area of Science:

• Gastroenterology
• Oncology
• Genetics

Background:

• Hamartomatous polyposis syndromes (HPS) are a group of disorders characterized by hamartomatous polyps in the GI tract and other symptoms.
• Classical HPS includes juvenile polyposis syndrome, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome, and hereditary mixed polyposis syndrome.
• Individuals with HPS face an elevated risk of gastrointestinal (GI) and extra-GI malignancies.

Purpose of the Study:

• To review the risks of GI malignancies associated with HPS.
• To explore potential mechanisms underlying cancer development in HPS.
• To outline current endoscopic surveillance recommendations for HPS patients.

Main Methods:

• Literature review of studies on hamartomatous polyposis syndromes.
• Analysis of epidemiological data regarding HPS and associated cancers.
• Synthesis of information on pathogenic mechanisms and surveillance guidelines.

Main Results:

• HPS significantly elevates the risk for GI and extra-GI cancers, distinct from typical adenocarcinoma or colitis-associated cancers.
• The precise mechanisms driving malignancy in HPS are not fully understood but differ from common cancer pathways.
• Endoscopic surveillance is crucial for early detection and management of HPS-associated GI malignancies.

Conclusions:

• Hamartomatous polyposis syndromes represent a significant risk factor for gastrointestinal cancers.
• Further research is needed to elucidate the specific molecular mechanisms of carcinogenesis in HPS.
• Adherence to recommended endoscopic surveillance protocols is vital for improving outcomes in patients with HPS.