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hamartomatous polyposis syndrome; familial hamartomatous polyposis

Classification: - juvenile polyposis syndrome - Peutz-Jeghers syndrome - PTEN hamartoma tumor syndrome - Cowden's disease - Bannayan-Zonana syndrome Pathology: - hamartomatous polyps of the gastrointestinal tract Genetics: - autosomal-dominant pattern of inheritance Complications: - increased risk for multiple cancers, including colon cancer [1] Management: - surveillance & genetic counseling

Related

hamartoma

Specific

Cowden's disease; multiple hamartoma syndrome including Lhermitte-Duclos disease (cerebelloparenchymal disorder) juvenile polyposis coli Peutz-Jeghers syndrome (hamartomatous intestinal polyposis) PTEN hamartoma tumor syndrome

General

intestinal polyposis syndrome

References

  1. Medical Knowledge Self Assessment Program (MKSAP) 15, 17, 18. American College of Physicians, Philadelphia 2009, 2015, 2018 - Medical Knowledge Self Assessment Program (MKSAP) 20 American College of Physicians, Philadelphia 2025
  2. Zbuk KM, Eng C. Hamartomatous polyposis syndromes. Nat Clin Pract Gastroenterol Hepatol. 2007 Sep;4(9):492-502. Review. PMID: 17768394
  3. Boland CR, Idos GE, Durno C, et al. Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology. 2022;162:2063-2085. PMID: 35487791