• 四川大學(xué)華西醫(yī)院普外科（成都610041）;;
  • 　通訊作者： 李波;

【摘要】目的介紹黑斑息肉綜合征(PJS) 的研究和臨床診治進(jìn)展。
方法對(duì)PJS近幾年國(guó)內(nèi)、外的研究和臨床診治進(jìn)展的文獻(xiàn)作一概述。
結(jié)果PJS 是一種常染色體顯性遺傳病，以口周皮膚、唇、頰黏膜和指趾末端存在黑色素沉著和消化道存在多發(fā)性息肉為特征，其腸內(nèi)、腸外組織和器官易發(fā)生癌癥，是一種腫瘤易感綜合征，其致病基因?yàn)?9p上的STK11基因。
結(jié)論P(yáng)JS致病基因與腫瘤的發(fā)生和發(fā)展密切相關(guān)。PJS患者消化道內(nèi)和消化道外組織和器官都容易發(fā)生惡變。

引用本文： 董科,李波. 黑斑息肉綜合征的研究進(jìn)展. 中國(guó)普外基礎(chǔ)與臨床雜志, 2005, 12(2): 195-198. doi: 復(fù)制

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2. Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial PeutzJeghers syndrome [J]. Gastroenterology, 2000; 119(6)1447.
3. 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.
4. Peutz JLA. Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied peculiar pigmentation of skin and mucous membrane [J]. Ned Maandscbr Geneesk， 1921; 10（1）134.
5. Jeghers H, Mckusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance [J]. N Engl J Med, 1949; 241(26)1031.
6. McGarrity TJ, Kulin HE, Zaino RJ. PeutzJeghers syndrome [J]. Am J Gastroenterol, 2000; 95(3)596.
7. Boardman LA. Heritable colorectal cancer syndromes: recognition and preventive management [J]. Gastroenterol Clin North Am, 2002; 31(4)1107.
8. Utsunomiya J, Gocho H, Miyanaga T, et al. PeutzJeghers syndrome: its natural course and management [J]. Johns Hopkins Med J, 1975; 136(2)71.
9. Giardiello FM, Welsh SB, Hamilton SR, et al. Increased risk of cancer in the PeutzJeghers syndrome [J]. N Engl J Med. 1987; 316(24)1511.
10. Foley TR, McGarrity TJ, Abt AB. PeutzJeghers syndrome: a clinicopathologic survey of the “Harrisburg family” with a 49year followup [J]. Gastroenterology, 1988; 95(6)1535.
11. 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.
12. Taguchi T, Suita S, Taguchi S, et al. PeutzJeghers syndrome in children: high recurrence rate in shortterm followup [J]. Asian J Surg, 2003; 26(4)221.
13. Tovar JA, Eizaguirre I, Albert A, et al. PeutzJeghers syndrome in children: report of two cases and review of the literature [J]. J Pediatr Surg, 1983; 18(1)1.
14. Akiyama Y, Kataoka H, Nabershima K， et al. Adenocacinoma arising in a gastric PeutzJeghers polyp [J]. Jpn J pediatr surg ， 2001; 33(3)770.
15. Suda T, Wataanabe H, Hatakeyama K. PeutzJeghers syndrome [J]. Rinsbo Kagaku， 1988; 24(2)332.
16. Boardman LA, Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in patients with the PeutzJeghers syndrome [J]. Ann Intern Med, 1998; 128(11)896.
17. Spigelman AD, Murday V, Phillips RK. Cancer and the PeutzJeghers syndrome [J]. Gut, 1989; 30(11)1588.
18. Vasen HF. Clinical diagnosis and management of hereditary colorectal cancer syndromes [J]. J Clin Oncol, 2000; 18(21 Suppl)81S.
19. 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.
20. 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.
21. Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in PeutzJeghers syndrome [J]. Nature, 1998; 391(6663)184.
22. Nakagawa H, Koyama K, Nakamori S, et al. Frameshift mutation of the STK11 gene in a sporadic gastrointestinal cancer with microsatellite instability [J]. Jpn J Cancer Res, 1999; 90(6)633.
23. 李宜雄，呂新生，夏家輝，等. STK基因突變?cè)谥袊?guó)人PeutzJeghers綜合征的特征 [J]. 中華醫(yī)學(xué)遺傳學(xué)雜志， 2001； 18（1） 4.
24. Kang LC, Zhao XR, Zhou YS， et al. Mutations analysis of STK11 gene in Chinese families with peutzjeghers syndrome [J]. Chinese Science Bulletin， 2002; 47(11)1639.
25. Jiang CY, Esufali S, Berk T, et al. STK11/LKB1 germline mutations are not identified in most PeutzJeghers syndrome patients [J]. Clin Genet, 1999; 56(2)136.
26. De Facq L, De Sutter J, De Man M, et al. A case of PeutzJeghers syndrome with nasal polyposis, extreme iron deficiency anemia, and hamartomaadenoma transformation: management by combined surgical and endoscopic approach [J]. Am J Gastroenterol, 1995; 90(8)1330.
27. Boardman LA, Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in patients with the PeutzJeghers syndrome [J]. Ann Intern Med, 1998; 128(11)896.
28. Esteller M, Avizienyte E, Corn PG, et al. Epigenetic inactivation of LKB1 in primary tumors associated with the PeutzJeghers syndrome [J]. Oncogene, 2000; 19(1)164.
29. Tiainen M, Vaahtomeri K, Ylikorkala A, et al. Growth arrest by the LKB1 tumor suppressor: induction of p21(WAF1/CIP1) [J]. Hum Mol Genet, 2002; 11(13)1497.
30. Karuman P, Gozani O, Odze RD, et al. The PeutzJegher gene product LKB1 is a mediator of p53dependent cell death [J]. Mol Cell, 2001; 7(6)1307.
  1. 1. Burt RW. Poloypsis syndromes [J]. Clin perspectives gastro， 2002; 2（1）51.
  2. 2. Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial PeutzJeghers syndrome [J]. Gastroenterology, 2000; 119(6)1447.
  3. 3. 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.
  4. 4. Peutz JLA. Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied peculiar pigmentation of skin and mucous membrane [J]. Ned Maandscbr Geneesk， 1921; 10（1）134.
  5. 5. Jeghers H, Mckusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance [J]. N Engl J Med, 1949; 241(26)1031.
  6. 6. McGarrity TJ, Kulin HE, Zaino RJ. PeutzJeghers syndrome [J]. Am J Gastroenterol, 2000; 95(3)596.
  7. 7. Boardman LA. Heritable colorectal cancer syndromes: recognition and preventive management [J]. Gastroenterol Clin North Am, 2002; 31(4)1107.
  8. 8. Utsunomiya J, Gocho H, Miyanaga T, et al. PeutzJeghers syndrome: its natural course and management [J]. Johns Hopkins Med J, 1975; 136(2)71.
  9. 9. Giardiello FM, Welsh SB, Hamilton SR, et al. Increased risk of cancer in the PeutzJeghers syndrome [J]. N Engl J Med. 1987; 316(24)1511.
  10. 10. Foley TR, McGarrity TJ, Abt AB. PeutzJeghers syndrome: a clinicopathologic survey of the “Harrisburg family” with a 49year followup [J]. Gastroenterology, 1988; 95(6)1535.
  11. 11. 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.
  12. 12. Taguchi T, Suita S, Taguchi S, et al. PeutzJeghers syndrome in children: high recurrence rate in shortterm followup [J]. Asian J Surg, 2003; 26(4)221.
  13. 13. Tovar JA, Eizaguirre I, Albert A, et al. PeutzJeghers syndrome in children: report of two cases and review of the literature [J]. J Pediatr Surg, 1983; 18(1)1.
  14. 14. Akiyama Y, Kataoka H, Nabershima K， et al. Adenocacinoma arising in a gastric PeutzJeghers polyp [J]. Jpn J pediatr surg ， 2001; 33(3)770.
  15. 15. Suda T, Wataanabe H, Hatakeyama K. PeutzJeghers syndrome [J]. Rinsbo Kagaku， 1988; 24(2)332.
  16. 16. Boardman LA, Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in patients with the PeutzJeghers syndrome [J]. Ann Intern Med, 1998; 128(11)896.
  17. 17. Spigelman AD, Murday V, Phillips RK. Cancer and the PeutzJeghers syndrome [J]. Gut, 1989; 30(11)1588.
  18. 18. Vasen HF. Clinical diagnosis and management of hereditary colorectal cancer syndromes [J]. J Clin Oncol, 2000; 18(21 Suppl)81S.
  19. 19. 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.
  20. 20. 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.
  21. 21. Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in PeutzJeghers syndrome [J]. Nature, 1998; 391(6663)184.
  22. 22. Nakagawa H, Koyama K, Nakamori S, et al. Frameshift mutation of the STK11 gene in a sporadic gastrointestinal cancer with microsatellite instability [J]. Jpn J Cancer Res, 1999; 90(6)633.
  23. 23. 李宜雄，呂新生，夏家輝，等. STK基因突變?cè)谥袊?guó)人PeutzJeghers綜合征的特征 [J]. 中華醫(yī)學(xué)遺傳學(xué)雜志， 2001； 18（1） 4.
  24. 24. Kang LC, Zhao XR, Zhou YS， et al. Mutations analysis of STK11 gene in Chinese families with peutzjeghers syndrome [J]. Chinese Science Bulletin， 2002; 47(11)1639.
  25. 25. Jiang CY, Esufali S, Berk T, et al. STK11/LKB1 germline mutations are not identified in most PeutzJeghers syndrome patients [J]. Clin Genet, 1999; 56(2)136.
  26. 26. De Facq L, De Sutter J, De Man M, et al. A case of PeutzJeghers syndrome with nasal polyposis, extreme iron deficiency anemia, and hamartomaadenoma transformation: management by combined surgical and endoscopic approach [J]. Am J Gastroenterol, 1995; 90(8)1330.
  27. 27. Boardman LA, Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in patients with the PeutzJeghers syndrome [J]. Ann Intern Med, 1998; 128(11)896.
  28. 28. Esteller M, Avizienyte E, Corn PG, et al. Epigenetic inactivation of LKB1 in primary tumors associated with the PeutzJeghers syndrome [J]. Oncogene, 2000; 19(1)164.
  29. 29. Tiainen M, Vaahtomeri K, Ylikorkala A, et al. Growth arrest by the LKB1 tumor suppressor: induction of p21(WAF1/CIP1) [J]. Hum Mol Genet, 2002; 11(13)1497.
  30. 30. Karuman P, Gozani O, Odze RD, et al. The PeutzJegher gene product LKB1 is a mediator of p53dependent cell death [J]. Mol Cell, 2001; 7(6)1307.