Abstract
Peutz-Jeghers Syndrome (PJS) is known as a rare hereditary polyposis caused by malfunction of the serine/threonine kinase gene LKB1. PJS is characterized by the development of hamartomatous polyps in the gastrointestinal tract and mucocutaneous lentiginosis of the lips, oral cavity, and gingiva. Small bowel intussusception can be a major source of mortality in PJS patients. In addition, the incidence and progression risk of intestinal and extra-intestinal malignancies in PJS patients show significantly higher than in the general population. PJS patients were recommended to take enteroscopy for every 1–3 years starting at 8–10 years. PJS patients need regular screening for gastrointestinal and extraintestinal malignant tumors.
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References
Giardiello FM, Trimbath JD. PeutzeJeghers syndrome and management recommendations. Clin Gastroenterol Hepatol. 2006;4:408e15.
Chen HM, Fang JY. Genetics of the hamartomatous polyposis syndromes. A molecular review. Int J Color Dis. 2009;24:865–74.
Noel RJ, Werlin SL. Peutz-Jeghers syndrome. Are “shaggy” villi part of the pathology? Gastrointest Endosc. 2008;68:1004–5.
Schreibman IR, Baker M, Amos C, McGarrity TJ. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol. 2005;100:476–90.
Gammon A, Jasperson K, Kohlmann W, Burt RW. Hamartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol. 2009;23:219–31.
Hinds R, Philp C, Hyer W, Fell JM. Complications of childhood Peutz-Jeghers syndrome: implications for pediatric screening. J Pediatr Gastroenterol Nutr. 2004;39:219–20.
Hearle N, Schumacher V, Menko FH, et al. STK11 status and intussusception risk in Peutz-Jeghers syndrome. J Med Genet. 2006;43:e41.
Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010;59:975–86.
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Park, S.J., Kim, J.M. (2022). Peutz–Jeghers syndrome. In: Chun, H.J., Seol, SY., Choi, MG., Cho, J.Y. (eds) Small Intestine Disease. Springer, Singapore. https://doi.org/10.1007/978-981-16-7239-2_44
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DOI: https://doi.org/10.1007/978-981-16-7239-2_44
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