• 1.四川大學(xué)華西醫(yī)院普外科(成都610041);;
  • 2.四川省宜賓市第二人民醫(yī)院普外科(宜賓644000);

目的　分析Peutz-Jeghers綜合征及其合并癌變的臨床特征，總結(jié)其治療和隨訪策略。方法　回顧性分析四川大學(xué)華西醫(yī)院自1985年10月至2005年9月間收治的30例Peutz-Jeghers綜合征患者的臨床資料。結(jié)果　14例患者（46.67%）家族史明確，臨床以皮膚黏膜色素沉著、腹痛及便血為主要表現(xiàn)。并發(fā)腸套疊、腸梗阻18例(60.00%)，消化道出血16例(53.33%)； 發(fā)生惡變6例(20.00%)，其中小腸癌3例，結(jié)腸癌2例，胃癌1例，平均確診年齡32歲，惡變者的病理組織學(xué)分型均為低分化黏液腺癌。內(nèi)鏡高頻電凝息肉切除術(shù)、開腹腸道切開息肉切除及腸部分切除術(shù)為主要治療手段。結(jié)論　Peutz-Jeghers綜合征患者是惡性腫瘤的高發(fā)人群，癌的發(fā)病年齡較輕，分化較差。定期復(fù)查內(nèi)鏡，以內(nèi)鏡高頻電凝積極處理腸息肉，以及篩查腫瘤是提高Peutz-Jeghers綜合征遠(yuǎn)期療效的有效方法。

引用本文： 蔣曉忠,陳歷恒,嚴(yán)律南,朱勇,李富貴,杜一平,龔光. Peutz-Jeghers綜合征及其合并癌變的臨床分析. 中國普外基礎(chǔ)與臨床雜志, 2006, 13(6): 709-711. doi: 復(fù)制

1. 　Tomlinson IP, Houlston RS. Peutz-Jeghers syndrome [J].J Med Genet, 1997; 34(12)∶1007.
2. 　Peutz JL. A very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane [J]. Ned (Tijdschr) Geneeskd, 1921; 10∶134.
3. 　Jeghers H, Mckusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance [J]. N Engl J Med, 1949; 241(26)∶1031.
4. 　吳階平, 裘法祖主編. 黃家駟外科學(xué)(中冊(cè)) [M]. 第6版. 北京: 人民衛(wèi)生出版社, 1999∶1109~1110.
5. 　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 [J]. Nat Genet, 1997; 15(1)∶87.
6. 　Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome [J]. Nature, 1998; 391(6663)∶184.
7. 　Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase [J]. Nat Genet, 1998; 18(1)∶38.
8. 　黃潔夫主編. 腹部外科學(xué) [M]. 北京: 人民衛(wèi)生出版社, 2001∶1025.
9. 　Dong K, Li B. Peutz-Jeghers syndrome: case reports and update on diagnosis and treatment [J]. Chin J Dig Dis， 2004; 5(4)∶160.
10. 　Wang ZJ, Ellis I, Zauber P, et al. Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers’ syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence [J]. J Pathol， 1999; 188(1)∶9.
11. 　Wang ZJ, Churchman M, Avizienyte E, et al. Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients [J]. J Med Genet， 1999; 36(5)∶365.
12. 　Smith DP, Rayter SI, Niederlander C, et al. LIP1, a cytoplasmic protein functionally linked to the Peutz-Jeghers syndrome kinase LKB1 [J]. Hum Mol Genet， 2001; 10(25)∶2869.
13. 　王振軍, 劉玉村, 畢郭龍, 等. 黑斑息肉病病人的惡性腫瘤易感性研究 [J]. 中國實(shí)用外科雜志, 1999； 19(11)∶655.
14. 　楊　斌, 趙　博, 王振軍. 黑斑息肉病的臨床特點(diǎn)和治療策略 [J]. 大腸肛門病外科雜志, 2004； 10(4)∶271.
  1. 1. 　Tomlinson IP, Houlston RS. Peutz-Jeghers syndrome [J].J Med Genet, 1997; 34(12)∶1007.
  2. 2. 　Peutz JL. A very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane [J]. Ned (Tijdschr) Geneeskd, 1921; 10∶134.
  3. 3. 　Jeghers H, Mckusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance [J]. N Engl J Med, 1949; 241(26)∶1031.
  4. 4. 　吳階平, 裘法祖主編. 黃家駟外科學(xué)(中冊(cè)) [M]. 第6版. 北京: 人民衛(wèi)生出版社, 1999∶1109~1110.
  5. 5. 　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 [J]. Nat Genet, 1997; 15(1)∶87.
  6. 6. 　Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome [J]. Nature, 1998; 391(6663)∶184.
  7. 7. 　Jenne DE, Reimann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase [J]. Nat Genet, 1998; 18(1)∶38.
  8. 8. 　黃潔夫主編. 腹部外科學(xué) [M]. 北京: 人民衛(wèi)生出版社, 2001∶1025.
  9. 9. 　Dong K, Li B. Peutz-Jeghers syndrome: case reports and update on diagnosis and treatment [J]. Chin J Dig Dis， 2004; 5(4)∶160.
  10. 10. 　Wang ZJ, Ellis I, Zauber P, et al. Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers’ syndrome provides evidence for a hamartoma-(adenoma)-carcinoma sequence [J]. J Pathol， 1999; 188(1)∶9.
  11. 11. 　Wang ZJ, Churchman M, Avizienyte E, et al. Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients [J]. J Med Genet， 1999; 36(5)∶365.
  12. 12. 　Smith DP, Rayter SI, Niederlander C, et al. LIP1, a cytoplasmic protein functionally linked to the Peutz-Jeghers syndrome kinase LKB1 [J]. Hum Mol Genet， 2001; 10(25)∶2869.
  13. 13. 　王振軍, 劉玉村, 畢郭龍, 等. 黑斑息肉病病人的惡性腫瘤易感性研究 [J]. 中國實(shí)用外科雜志, 1999； 19(11)∶655.
  14. 14. 　楊　斌, 趙　博, 王振軍. 黑斑息肉病的臨床特點(diǎn)和治療策略 [J]. 大腸肛門病外科雜志, 2004； 10(4)∶271.