Peutz-Jeghers syndrome
Last updated 18 Aug 2020
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Peutz-Jeghers syndrome is characterised 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.
Description
Peutz-Jeghers syndrome is characterised 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.
Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause health problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain.
People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumours.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Intestinal polyposis-cutaneous pigmentation syndrome
Lentiginosis, perioral
Periorificial lentiginosis syndrome
Peutz-Jeghers polyposis
PJS
Polyposis, hamartomatous intestinal
Polyposis, intestinal, II
Polyps-and-spots syndrome
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Further reading and references
- Peutz-Jeghers syndrome; MedlinePlus, National Library of Medicine.
- Amos CI, Wagner A. Peutz-Jeghers Syndrome. 2001 Feb 23 [updated 2026 Oct 6]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1266/
- Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bulow S, Burn J, Capella G, Colas C, Friedl W, Moller P, Hes FJ, Jarvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV. Peutz-Jeghers syndrome: a systematic review and recommendations 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 patient with Peutz-Jeghers syndrome: report of a case and review of the literature. Surgery. 2004 Mar;135(3):352-4. doi: 10.1016/s0039-6060(03)00379-9. No abstract available.
- Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, Keller JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, Giardiello FM, Gruber SB, Offerhaus GJ, de Rooij FW, Wilson JH, Hansmann A, Moslein G, Royer-Pokora B, Vogel T, Phillips RK, Spigelman AD, Houlston RS. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006 May 15;12(10):3209-15. doi: 10.1158/1078-0432.CCR-06-0083.
- Hernan I, Roig I, Martin B, Gamundi MJ, Martinez-Gimeno M, Carballo M. De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome. Clin Genet. 2004 Jul;66(1):58-62. doi: 10.1111/j.0009-9163.2004.00266.x.
- Latchford AR, Phillips RK. Gastrointestinal polyps and cancer in Peutz-Jeghers syndrome: clinical aspects. Fam Cancer. 2011 Sep;10(3):455-61. doi: 10.1007/s10689-011-9442-1.
- McGarrity TJ, Kulin HE, Zaino RJ. Peutz-Jeghers syndrome. Am J Gastroenterol. 2000 Mar;95(3):596-604. doi: 10.1111/j.1572-0241.2000.01831.x.
- Merg A, Lynch HT, Lynch JF, Howe JR. Hereditary colorectal cancer-part II. Curr Probl Surg. 2005 May;42(5):267-333. doi: 10.1067/j.cpsurg.2005.02.003. No abstract available.
- van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol. 2010 Jun;105(6):1258-64; author reply 1265. doi: 10.1038/ajg.2009.725. Epub 2010 Jan 5.
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