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Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006;12:3209-3215.

Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol. 2006 Apr;4(4):408-15.

Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010 Jul;59(7):975-86.

Dunlop MG. Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, juvenile polyposis, and Peutz-Jeghers syndrome. Gut. 2002 Oct;51(suppl 5):V21-7.

参考文章

1.  Giardiello FM, Bresinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000 Dec;119(6):1447-53.

2.  Utsunomiya J, Gocho H, Miyanaga T, et al. Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J. 1975;136:71-82.

3.  Burt R. Polyposis syndromes. Clin Perspect Gastro. 2002;51-59.

4.  Mehenni H, Resta N, Guanti G, et al. Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome. Dig Dis Sci. 2007;52:1924-1933.

5.  Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006;12:3209-3215.

6.  Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. 1998 Jan;18(1):38-43.

7.  Hemminki A, Makie D, Tomlinson I, et al. A serine threonine kinase gene defect in Peutz Jeghers syndrome. Nature. 1998 Jan 8;391(6663):184-7.

8.  McGarrity TJ, Peiffer LP, Amos CI, et al. Overexpression of cyclooxygenase 2 in hamartomatous polyps of Peutz-Jeghers syndrome. Am J Gastroenterol. 2003 Mar;98(3):671-8.

9.  Wei C, Amos CI, Rashid A, et al. Correlation of staining for LKB1 and COX-2 in hamartomatous polyps and carcinomas from patients with Peutz-Jeghers syndrome. J Histochem Cytochem. 2003 Dec;51(12):1665-72.

10.  Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol. 2006 Apr;4(4):408-15.

11.  Tovar JA, Eizaguirre I, Albert A, et al. Peutz-Jeghers syndrome in children: report of two cases and review of the literature. J Pediatr Surg. 1983 Feb;18(1):1-6.

12.  Spigelman AD, Thomson JP, Phillips RK. Towards decreasing the relaparotomy rate in the Peutz-Jeghers syndrome: the role of peroperative small bowel endoscopy. Br J Surg. 1990 Mar;77(3):301-2.

13.  McGarrity TJ, Kulin HE, Zaino RJ. Peutz-Jeghers syndrome. Am J Gastroenterol. 2000 Mar;95(3):596-604.

14.  Aaltonen LA, Jarvin H, Gruber SB, et al. Peutz-Jeghers syndrome. In: Hamilton SR, Aaltonen LA, eds. Tumors of the digestive system. Lyon, France: IACR; 2000:74-6.

15.  Syngal S, Brand RE, Church JM, et al; American College of Gastroenterology. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 Feb;110(2):223-62.

16.  Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010 Jul;59(7):975-86.

17.  Hemminki A. The molecular basis and clinical aspects of Peutz-Jeghers syndrome. Cell Mol Life Sci. 1999 May;55(5):735-50.

18.  Amos CI, Keitheri-Cheteri MB, Sabripour M, et al. Genotype-phenotype correlations in Peutz-Jeghers syndrome. J Med Genet. 2004 May;41(5):327-33.

19.  Aretz S, Stienen D, Uhlhaas S, et al. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat. 2005 Dec;26(6):513-9.

20.  Volikos E, Robinson J, Aittomaki K, et al. LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome. J Med Genet. 2006 May;43(5):e18.

21.  Sweet K, Willis J, Zhou X-P, et al. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA. 2005 Nov 16;294(19):2465-73.

22.  Oncel M, Remzi FH, Church JM, et al. Benefits of "clean sweep" in Peutz-Jegher's patients. Colorectal Dis. 2004 Sep;6(5):332-5.

23.  Pennazio M, Rossini FP. Small bowel polyps in Peutz-Jeghers syndrome: management by combined push enteroscopy and intraoperative enteroscopy. Gastrointest Endosc. 2000 Mar;51(3):304-8.

24.  Edwards DP, Khosraviani K, Stafferton R, et al. Long-term results of polyp clearance by intraoperative enteroscopy in the Peutz-Jeghers syndrome. Dis Colon Rectum.  2003 Jan;46(1):48-50.

25.  Lin BC, Lien JM, Chen RJ, et al. Combined endoscopic and surgical treatment for the polyposis of Peutz-Jeghers syndrome. Surg Endosc. 2000 Dec;14(12):1185-7.

26.  Zanoni EC, Averbach M, Borges JL, et al. Laparoscopic treatment of intestinal intussusception in the Peutz-Jeghers syndrome: case report and review of the literature. Surg Laparosc Endosc Percutan Tech. 2003 Aug;13(4):280-2.

27.  Latchford AR, Neale K, Phillips RK, et al. Peutz-Jeghers syndrome: intriguing suggestion of gastrointestinal cancer prevention from surveillance. Dis Colon Rectum. 2011 Dec;54(12):1547-51.

28.  Gorospe EC, Alexander JA, Bruining DH, et al. Performance of double-balloon enteroscopy for the management of small bowel polyps in hamartomatous polyposis syndromes. J Gastroenterol Hepatol. 2013 Feb;28(2):268-73.

29.  Kato S, Takeyama J, Tanita Y, et al. Ruby laser therapy for labial lentigines in Peutz-Jeghers syndrome. Eur J Pediatr. 1998 Aug;157(8):622-4.

30.  Remington BK, Remington TK. Treatment of facial lentigines in Peutz-Jeghers syndrome with intense pulsed light source. Dermatol Surg. 2002 Nov;28(11):1079-81.

31.  Udd L, Katajisto P, Rossi DJ, et al. Suppression of Peutz-Jeghers polyposis by inhibition of cyclooxygenase-2. Gastroenterology. 2004 Oct;127(4):1030-7.

32.  Wei C, Amos CI, Zhang N, et al. Suppression of Peutz-Jeghers polyposis by targeting mammalian target of rapamycin signaling. Clin Cancer Res. 2008 Feb 15;14(4):1167-71.

33.  Wei C, Amos CI, Zhang N, et al. Chemopreventive efficacy of rapamycin on Peutz-Jeghers syndrome in a mouse model. Cancer Lett. 2009 May 18;277(2):149-54.

34.  Kuwada SK, Burt R. A rationale for mTOR inhibitors as chemoprevention agents in Peutz-Jeghers syndrome. Fam Cancer. 2011 Sep;10(3):469-72.

35.  Westerman AM, Entius MM, de Baar E, et al. Peutz-Jeghers syndrome: 78 year follow up of the original family. Lancet. 1999 Apr 10;353(9160):1211-5.

36.  Spigelman AD, Murday V, Phillips RK. Cancer and the Peutz-Jeghers syndrome. Gut. 1989 Nov;30(11):1588-90.

37.  Dunlop MG. Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, juvenile polyposis, and Peutz-Jeghers syndrome. Gut. 2002 Oct;51(suppl 5):V21-7.

38.  Mata A, Llach J, Castells A, et al. A prospective trial comparing wireless capsule endoscopy and barium contrast series for small-bowel surveillance in hereditary GI polyposis syndromes. Gastrointest Endosc. 2005 May;61(6):721-5.

39.  Tomlinson IP, Houlston RS. Peutz-Jeghers syndrome. J Med Genet. 1997 Dec;34(12):1007-11.

40.  Lucidarme P, Dridba M, el-Khoury S, et al. Ovarian tumors and Peutz-Jeghers syndrome: a case report [in French]. Gastroenterol Clin Biol. 1990;14(12):1015-8.

41.  Christian CD, McLoughlin TG, Cathcart ER, et al. Peutz-Jeghers syndrome associated with functioning ovarian tumor. JAMA. 1964 Dec 7;190:935-8.

42.  Srivasta PJ, Keeney GL, Podratz KC. Disseminated cervical adenoma malignum and bilateral ovarian sex cord tumors with annular tubules associated with Peutz-Jeghers syndrome. Gynecol Oncol. 1994 May;53(2):256-64.

43.  Costamagna G, Shah SK, Riccioni ME, et al. A prospective trial comparing small bowel radiographs and video capsule endoscopy for suspected small bowel disease. Gastroenterology. 2002 Oct;123(4):999-1005.

44.  Parsi M, Burke CA. The utility of capsule endoscopy in Peutz-Jeghers syndrome. Gastrointest Endosc Clin N Am. 2004 Jan;14(1):159-67.

45.  Schulmann K. Schmiegel W. Capsule endoscopy for small bowel surveillance in hereditary intestinal polyposis and non-polyposis syndromes. Gastrointest Endosc Clin N Am. 2004 Jan;14(1):149-58.

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