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Hamartomatous, Serrated, and Mixed Polyposis Syndromes
Jessica E Ebrahimzadeh1, Kristin Zelley2, Suzanne P MacFarland3
1Division of Hematology/Oncology, Department of Medicine, Penn Medicine, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA.
Abstract:
Gastrointestinal (GI) polyposis syndromes are diverse inherited or sporadic disorders marked by multiple GI polyps. They significantly increase the risk of GI and extraintestinal cancers. Beyond adenomatous syndromes, clinically important nonadenomatous syndromes-hamartomatous (juvenile polyposis, Peutz-Jeghers, and PTEN hamartoma tumor), serrated polyposis, and GREM1-associated mixed polyposis-require accurate diagnosis and management. Early recognition supports timely genetic testing, cascade testing in families, and appropriate surveillance and risk-reduction. This article covers their features, genetic causes, diagnosis, and cancer-risk management.
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