Juvenile polyposis syndrome: An overview

Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101799. doi: 10.1016/j.bpg.2022.101799. Epub 2022 Apr 4.


Juvenile polyposis syndrome (JPS) is a rare precancerous condition that confers an increased risk of developing gastrointestinal cancers. The inheritance pattern is autosomal dominant. JPS should be clinically suspected when the other hamartomatous polyposis syndromes are excluded (i.e., Peutz- Jeghers and Cowden), in presence of numerous juvenile polyps in the colorectum or in other GI locations. Among the syndromic features, JPS can present with concomitant extra-intestinal manifestations, above all cutaneous manifestations such as telangiectasia, pigmented nevi, and skeletal stigmata. Pathogenic germline variants of either BMPR1A or SMAD4 cause the syndrome. In JPS a cumulative risk of CRC of 39-68% has been estimated. The oncological risk justifies and imposes prevention strategies that aim at the cancer risk reduction through endoscopic screening, as recommended by international scientific societies. The aim of this review is to summarize clinical and genetic features of JPS and to elucidate the steps of the clinical management from diagnosis to surveillance.

Keywords: Colorectal cancer; Hereditary syndrome; Juvenile polyposis; Polyposis.

Publication types

  • Review

MeSH terms

  • Colorectal Neoplasms* / genetics
  • Gastrointestinal Neoplasms*
  • Humans
  • Intestinal Polyposis* / congenital
  • Intestinal Polyposis* / diagnosis
  • Intestinal Polyposis* / genetics
  • Intestinal Polyposis* / pathology
  • Neoplastic Syndromes, Hereditary* / diagnosis
  • Neoplastic Syndromes, Hereditary* / genetics
  • Peutz-Jeghers Syndrome* / diagnosis
  • Peutz-Jeghers Syndrome* / genetics
  • Peutz-Jeghers Syndrome* / pathology

Supplementary concepts

  • Juvenile polyposis syndrome