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二例Peutz-Jeghers综合征的临床分析及文献复习 被引量:1

The Clinical Analysis and Document Review of Two Cases Peutz-Jeghers Syndrome
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摘要 目的:探讨黑斑-息肉综合征(Peutz-Jeghers Syndrome,PJS)的临床诊治方法。方法:通过2例PJS病例报告,分析PJS的诊治进展。结果:PJS是一种少见的常染色体显性遗传病,以皮肤黏膜黑色素沉着及胃肠道多发性息肉为特征,其致病基因为19p上的STK 11基因。结论:PJS致病基因与肿瘤的发生和发展密切相关。 Objective: To investigate the clinical diagnosis and treatment of Peutz-Jeghers Syndrome. Methods: Analysis the progress in diagnosis and treatment of PJS by 2 cases report of PJS. Results: PJS is a rare inherited disease with autosomal dominant trait, which is characterized by the presence of mucocutaneous pig- mentation and hamartomatous gastrointestinal polyps, STK 11 on chromosome 19p are responsible for most cases of PJS. Conclusions: The main genes responsible of PJS has close correlation with formation and development of tumors.
作者 丛春莉
出处 《内蒙古医学杂志》 2009年第1期52-54,共3页 Inner Mongolia Medical Journal
关键词 PEUTZ-JEGHERS综合征 息肉 肿瘤 Peutz - Jeghers Syndrome Polyp Tumor
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参考文献5

  • 1Peutz JLA. Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied peculiar pigmentation of skin and mucous membrane[J]. Ned Maandscbr Geneesk, 1921, 10( 1 ) : 134.
  • 2Jeghers H, Mckusick VA, Katz KH. Generalized intestinal poiyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance[J]. N Engl J Med, 1949, 241 (26):1031.
  • 3GiardieUo FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz - Jeghers Syndrome [ J ]. Gastroenterology, 2000, 119(6) :1447.
  • 4Kang LC, Zhao XR, Zhou YS, et al. Mutalions analysis of STKll gene in Chinese families with Peutz - Jeghers Syndrome[J]. Chinese Science Bulletin, 2002, 47(11) :1639.
  • 5Bartosova Z, Zavodaa K , Krivulcik T , et al. STK11/LKB1 germline mutations in the first Peutz - Jeghers Syndrome patients identified in Slovakia[ J]. Neoplasma , 2007, 54(1) : 101 - 107.

同被引文献27

  • 1刘金霞,周平.Peutz-Jeghers综合征致病基因的研究[J].空军总医院学报,2010,26(4):209-213. 被引量:4
  • 2胡顺彩.Peutz-Jeghers综合征8例临床分析[J].中国医师杂志,2006,8(1):92-92. 被引量:2
  • 3Stojcev Z, Boron P, Hermann 1. et al. Hamartomtous polyposis syndromes[J]. Hered Cancer Clin Pract, 2013, 11 (1): 4.
  • 4Bartosova Z, Zavodna K, Krivdcik T, et al. STKII / LKBI germline mutations in the first Peutz-Jeghem syndrome patients identified in Slovakia[J]. Neoplas?rna, 2007, 54 (1): 101-107.
  • 5Kang LC, Zhao XR, Zhou YS, et at. Mutations ana?lysis of STKllgene in Chinese families with Peutz?Jeghers Syndmme[J]. Chinese Science Bulletin, 2002, 47 (11): 1639.
  • 6Hemminki A, Markie D, Tomlinson I, et al. A ser?ine / threonine kinase gene defective in Peutz-Jeghers syndrome[J]. Nature, 1998, 391: 184-187.
  • 7McGarrity T], Kulin HE, Zaino RJ. Peutz-Jeghers s?yndrome[J]. Am J Gastroenterol, 2000, 95 (3): 596- 604.
  • 8Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendation[J]. Clin Gastroen?terol Hepatol, 2006, 4 (4): 408-415.
  • 9Hearle N, Schumacher V, Menko FH, et al. STKII status and intussusception risk in Peutz-Jeghers syn?drome[J]. J Med Genet, 2006, 43 (8): e41.
  • 10Boardman LA, Couch FJ, Burgart U, et al. Genetic heterogeneity in Peutz-Jeghers syndrome[J]. Hum Mu?tat 2000, 16 (1): 23-30.

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