Peutz-Jeghers Syndrome

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Xu, R. Peutz-Jeghers Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5316 (accessed on 21 September 2026).

Xu R. Peutz-Jeghers Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5316. Accessed September 21, 2026.

Xu, Rita. "Peutz-Jeghers Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5316 (accessed September 21, 2026).

Xu, R. (2020, December 24). Peutz-Jeghers Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5316

Xu, Rita. "Peutz-Jeghers Syndrome." Encyclopedia. Web. 24 December, 2020.

Peutz-Jeghers Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome

Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer.

genetic conditions

References

Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L,Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ,Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de LeonM, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT,Clark SK, Hodgson SV. Peutz-Jeghers syndrome: a systematic review andrecommendations for management. Gut. 2010 Jul;59(7):975-86. doi:10.1136/gut.2009.198499.
Brinster DR, Raper SE. Synchronous colon and pancreatic cancers in a patientwith Peutz-Jeghers syndrome: report of a case and review of the literature.Surgery. 2004 Mar;135(3):352-4.
Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, KellerJJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, Giardiello FM, Gruber SB,Offerhaus GJ, de Rooij FW, Wilson JH, Hansmann A, Möslein G, Royer-Pokora B,Vogel T, Phillips RK, Spigelman AD, Houlston RS. Frequency and spectrum ofcancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006 May15;12(10):3209-15.
Hernan I, Roig I, Martin B, Gamundi MJ, Martinez-Gimeno M, Carballo M. De novogermline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome. Clin Genet. 2004 Jul;66(1):58-62.
Latchford AR, Phillips RK. Gastrointestinal polyps and cancer in Peutz-Jegherssyndrome: clinical aspects. Fam Cancer. 2011 Sep;10(3):455-61. doi:10.1007/s10689-011-9442-1. Review.
McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers Syndrome. 2001 Feb 23 [updated 2016 Jul 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1266/
McGarrity TJ, Kulin HE, Zaino RJ. Peutz-Jeghers syndrome. Am J Gastroenterol. 2000 Mar;95(3):596-604. Review.
Merg A, Lynch HT, Lynch JF, Howe JR. Hereditary colorectal cancer-part II.Curr Probl Surg. 2005 May;42(5):267-333. Review.
van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, vanLeerdam ME. High cancer risk in Peutz-Jeghers syndrome: a systematic review andsurveillance recommendations. Am J Gastroenterol. 2010 Jun;105(6):1258-64; authorreply 1265. doi: 10.1038/ajg.2009.725.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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