Abstract
Peutz-Jeghers syndrome is a rare genetic disorder characterized by mucocutaneous melanin deposition, intestinal polyposis and an increased risk of cancer, both intestinal and extra-intestinal. We describe the current status of diagnosis and the methods by which the consequences of this condition can be minimized. A surveillance program for those diagnosed is also included.
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References
Phillips RKS, Spigelman AD, Thompson JPS (eds). Familial Adenomatous Polyposis and other polyposis syndromes. London: Edward Arnold,1994.
Lindor NM, Greene MH. Special article: the concise handbook of family cancer syndromes. J Natl Cancer Inst 1998; 90(14): 1039-71.
Hemminki A. The molecular basis and clinical aspects of Peutz-Jeghers Syndrome. Cell Mol Life Sci 1999; 55: 735-50.
Tomlinson IPM, Houlston RS. Peutz-Jeghers syndrome. J Med Genet 1997; 34: 1007-11.
Amos Cl, Frazier ML, McGarrity TJ. Peutz-Jeghers syndrome. Seattle: University of Washington (http://www.geneclinics.org/ profiles/pjs/details.html) February 2001.
Giardiello FM, Welsh SB, Hamilton SR et al. Increased risk of cancer in the Peutz-Jeghers syndrome. New Engl J Med 1987; 316: 1511-4.
Spigelman AD, Murday V, Phillips RKS. Cancer and the Peutz-Jeghers syndrome. Gut 1989; 30: 1588-90.
Boardman LA, Thibodeau SN, Schiad DJ et al. Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 1998; 128: 896-9.
Giardiello FM, Brensinger JD, Tersmette AC et al. Very high risk of cancer in Familial Peutz-Jeghers syndrome. Gastroenterol 2000; 119: 1447-53.
Australian Institute of Health and Welfare (AIHW) & Australasian Association of Cancer Registries (AACR) 2000. Cancer in Australia 1997: Incidence and mortality data for 1997 and selected data for 1998 and 1999. AIHW cat. No. CAN 10. Canberra: AIHW (Cancer Series no. 15)
McGarrity TJ, Kulin HE, Zaino RJ. Peutz-Jeghers syndrome. Am J Gastroenterol 2000; 95(3): 596-604.
Doi T, Yamashita Y, Yasunaga T et al. Adenoma Malignum: MR imaging and pathologic study. Radiology 1997; 204: 39-42.
Granter SR, Lee KR. Cytologic findings in minimal deviation adenocarcinoma (Adenoma Malignum) of the cervix. Am J Clin Pathol 1996; 105: 327-33.
Hirai Y, Takeshima N, Haga A et al. A clinicocytopathologic study of Adenoma Malignum of the uterine cervix. Gynaecol Oncol 1998; 70: 219-23.
Hertl MC, Wiebel J, Schäfer H et al. Feminizing Sertoli Cell tumours associated with Peutz-Jeghers syndrome: an increasingly recognized cause of prepubertal gynaecomastia. Plas Recon Surg 1998; 102: 1151-7.
NHMRC. Guidelines for the prevention, early detection and management of Colorectal Cancer. Canberra: Australian Government Publishing Service, 1999.
Hemminki A, Tomlinson I, Markie D et al. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nature Genet 1997; 15: 87-90.
Boardman LA, Couch FJ, Burgart LJ et al. Genetic heterogeneity in Peutz-Jeghers syndrome. Hum Mutat 2000; 16: 23-30.
Spigelman AD, Thomson JPS, Phillips RKS. Towards decreasing the relaparotomy rate in the Peutz-Jeghers syndrome: the role of preoperative small bowel endoscopy. Br J Surg 1990; 77: 301-2.
Pennazio M, Rossini FP. Small bowel polyps in Peutz-Jeghers syndrome: management by combined push enteroscopy and intraoperative enteroscopy. Gastrointest Endosc 2000; 51: 304-8.
Sudduth RH, Bute BG, Schoelkopf L et al. Small bowel obstruction in a patient with Peutz-Jeghers syndrome: the role of intraoperative endoscopy. Gastrointest Endosc 1992; 38: 69-72.
Edwards DP, Stafferton R, Phillips RKS. The long-term results of polyp clearance in Peutz-Jeghers syndrome by intra-operative endoscopy. Abstract of the Third Joint Meeting, Leeds Castle Polyposis Group and International Collaborative Group for Hereditary Non-polyposis Colorectal Cancer. 2001 April 26-28; Venice, Italy.
Ingrosso M, Prete F, Pisani A et al. Laparoscopically assisted total enteroscopy: a new approach to small intestinal diseases. Gastrointest Endosc 1999; 49: 651-3.
Olschwang S, Boisson C, Thomas G. Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma. J Med Genet 2001; 38: 356-60.
Semelka RC, Marcos HB. Polyposis syndromes of the gastrointestinal tract: MR findings. J Magn Reson Imaging 2000; 11: 51-5.
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McGrath, D.R., Spigelman, A.D. Preventive measures in Peutz-Jeghers syndrome. Familial Cancer 1, 123–127 (2001). https://doi.org/10.1023/A:1013896813918
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DOI: https://doi.org/10.1023/A:1013896813918