Hamartomatous Polyposis Syndromes: Peutz–Jeghers Syndrome and Familial Juvenile Polyposis


The hamartomatous polyposes are rare syndromes but provide fascinating insights into both the different mechanisms by which cancer can develop and the precursor lesions involved.

Keywords: colon; rectum; cancer; hamartoma; polyposis; PJS; JPS


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Further Reading

Houlston R, Bevan S, Williams A, et al. (1998) Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. Human Molecular Genetics 7(12): 1907–1912.

Sapkota GP, Kieloch A, Lizcano JM, et al. (2001) Phosphorylation of the protein kinase mutated in Peutz–Jeghers cancer syndrome, LKB1/STK11, at Ser431 by p90(RSK) and cAMP‐dependent protein kinase, but not its farnesylation at Cys(433), is essential for LKB1 to suppress cell growth. Journal of Biological Chemistry 276(22): 19469–19482.

Wang ZJ, Churchman M, Avizienyte E, et al. (1999) Germline mutations of the LKB1 (STK11) gene in Peutz–Jeghers patients. Journal of Medical Genetics 36(5): 365–368.

Wang ZJ, Taylor F, Churchman M, Norbury G and Tomlinson I (1998) Genetic pathways of colorectal carcinogenesis rarely involve the PTEN and LKB1 genes outside the inherited hamartoma syndromes. American Journal of Pathology 153(2): 363–366.

Woodford‐Richens K, Bevan S, Churchman M, et al. (2000) Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut 46(5): 656–660.

Woodford‐Richens KL, Rowan AJ, Poulsom R, et al. (2001) Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers. American Journal of Pathology 159(4): 1293–1300.

Woodford‐Richens K, Williamson J, Bevan S, et al. (2000) Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium. Cancer Research 60(9): 2477–2482.

Zhou XP, Woodford‐Richens K, Lehtonen R, et al. (2001) Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan–Riley–Ruvalcaba syndromes. American Journal of Human Genetics 69(4): 704–711.

Web Links

Bone morphogenetic protein receptor, type IA (BMPR1A); Locus ID: 657. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=657

MAD, mothers against decapentaplegic homolog 4 (Drosophila) (MADH4); Locus ID: 4089. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4089

Serine/threonine kinase 11 (Peutz–Jeghers syndrome) (STK11); Locus ID: 6794. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6794

Bone morphogenetic protein receptor, type IA (BMPR1A); MIM number: 601299. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?601299

MAD, mothers against decapentaplegic homolog 4 (Drosophila) (MADH4); MIM number: 600993. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?600993

Serine/threonine kinase 11 (Peutz–Jeghers syndrome) (STK11); MIM number: 602216. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?602216

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Tomlinson, Ian PM(Jan 2006) Hamartomatous Polyposis Syndromes: Peutz–Jeghers Syndrome and Familial Juvenile Polyposis. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005997]