• 中國醫(yī)科大學(xué)附屬第四醫(yī)院胃腸外科(遼寧沈陽 110032);

目的  分析中國東北地區(qū)遺傳性非息肉病性結(jié)直腸癌(HNPCC)患者的臨床病理特點。
方法  對1982~2011年期間中國醫(yī)科大學(xué)附屬第四醫(yī)院和遼寧省腫瘤醫(yī)院登記的73例符合Amsterdam標(biāo)準(zhǔn)及28例符合Bethesda指導(dǎo)綱要的101例先證者組成HNPCC組,隨機(jī)選取同期收治的散發(fā)性結(jié)直腸癌患者272例組成散發(fā)組,回顧性分析、比較2組的臨床病理特點。
結(jié)果  HNPCC組發(fā)病年齡≤45歲者24例(23.8%)、腫瘤位于近端結(jié)腸31例(30.7%)、多原發(fā)癌26例(25.7%)、腸外惡性腫瘤13例(12.9%)、黏液腺癌32例(31.7%)、Ⅰ+Ⅱ期68例(67.3%)、高-中分化70例(69.3%)、有淋巴結(jié)轉(zhuǎn)移者33例(32.7%),散發(fā)組分別為12例(4.4%)、54例(19.9%)、15例(5.5%)、11例(4.0%)、30例(11.0%)、127例(46.7%)、152例(55.9%)、140例(51.5%),2組比較差異均有統(tǒng)計學(xué)意義(P<0.05),但2組間性別比較差異無統(tǒng)計學(xué)意義(P>0.05)。同時HNPCC組腸外腫瘤依次是子宮內(nèi)膜癌3例、膀胱癌3例、乳腺癌2例、腦瘤2例、卵巢癌1例、胃癌1例、肺癌1例。
結(jié)論  中國東北地區(qū)HNPCC具有發(fā)病年齡早、好發(fā)于近側(cè)結(jié)腸、多原發(fā)癌常見、腸外惡性腫瘤發(fā)生率高、黏液腺癌多見、腫瘤分期早、分化程度較好和淋巴結(jié)轉(zhuǎn)移少見的特點,臨床病理特征仍然是診斷HNPCC患者或可疑患者的首選方法。

引用本文: 閆一飛,李曉霞,唐元新,李鑫,孫公平,趙萌,孟金,梁高峰. 中國東北地區(qū)遺傳性非息肉病性結(jié)直腸癌臨床病理特點分析△. 中國普外基礎(chǔ)與臨床雜志, 2013, 20(2): 138-142. doi: 復(fù)制

1. Lynch HT, de la Chapelle A. Hereditary colorectal cancer[J]. N Engl J Med, 2003, 348(10):919-932.
2. Aaltonen LA, Peltomäki P, Mecklin JP, et al. Replication errorsin benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients[J]. Cancer Res, 1994, 54(7):1645-1648.
3. Peltomäki P, Lothe RA, Aaltonen LA, et al. Microsatellite insta-bility is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome[J]. Cancer Res, 1993, 53(24):5853-5855.
4. Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer[J]. Cell, 1993, 75(5):1027-1038.
5. Vasen HF, Mecklin JP, Khan PM, et al. The International Colla-borative Group on hereditary non-polyposis colorectal cancer (ICG-HNPCC)[J]. Dis Colon Rectum, 1991, 34(5):424-425.
6. Vasen HF, Watson P, Mecklin JP, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC[J]. Gastroenterology, 1999, 116(6):1453-1456.
7. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability[J]. J Natl Cancer Inst, 2004, 96(4):261-268.
8. Lynch HT, Lynch PM, Lanspa SJ, et al. Review of the lynch syndrome:history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications[J]. Clin Genet, 2009, 76(1):1-18.
9. Pino MS, Chung DC. Microsatellite instability in the management of colorectal cancer[J]. Expert Rev Gastroenterol Hepatol,.
10. 李建勝, 俞美萍, 莫善兢, 等. 遺傳性非息肉病性大腸癌18個家系64例分析[J]. 中國中西醫(yī)結(jié)合外科雜志, 2010, 16(6):619-623.
11. Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review[J]. Cancer, 1996, 78(6):1149-1167.
12. Drescher KM, Sharma P, Lynch HT. Current hypotheses on how microsatellite instability leads to enhanced survival of Lynch syndrome patients[J]. Clin Dev Immunol, 2010, 2010:170432.
13. 丁元升, 商嵩山, 張劍權(quán), 等. 新疆地區(qū)遺傳性非息肉病性大腸癌臨床病理特點分析[J]. 山東醫(yī)藥, 2010, 50(34):10-11.
14. Kalady MF, Lipman J, McGannon E, et al. Risk of colonic neoplasia after proctectomy for rectal cancer in hereditary nonpolyposis colorectal cancer[J]. Ann Surg, 2012, 255(6):1121-1125.
15. Watson P, Vasen HF, Mecklin JP, et al. The risk of extra-colonic,extra-endometrial cancer in the Lynch syndrome[J]. Int J Cancer,.
16. Yuan Y, Ye J, Zheng S, et al. Clinical and genetic features of International collaborative Group-hereditary nonpolyposis colorectal cancer families and suspected hereditary nonpolyposis colorectal cancer families[J]. Chin Med J, 2004, 117(5):748-752.
17. 李曉霞, 唐元新, 孫公平, 等. 中國東北地區(qū)遺傳性非息肉病性結(jié)直腸癌家系腸外腫瘤譜特點分析[J]. 中國普外基礎(chǔ)與臨床雜志, 2012, 19(3):288-291.
18. 徐肇翊, Brown L, 潘國偉, 等. 中國北方城市肺癌與生活方式及環(huán)境污染的關(guān)系[J]. 腫瘤, 1996, 16(4):506-508.
19. 吳菲, 林國楨, 張晉昕, 等. 我國惡性腫瘤發(fā)病現(xiàn)狀及趨勢[J]. 中國腫瘤, 2012, 21(4):81-85.
20. Buckowitz A, Knaebel HP, Benner A, et al. Microsatellite insta-bility in colorectal cancer is associated with local lymphocyte infilt-ration and low frequency of distant metastases[J]. Br J Cancer, 2005, 92(9):1746-1753.
21. Drescher KM, Sharma P, Watson P, et al. Lymphocyte recruitment into the tumor site is altered in patients with MSI-H colon cancer[J]. Fam Cancer, 2009, 8(3):231-239.
22. Dolcetti R, Viel A, Doglioni C, et al. High prevalence of activated intraepithelial cytotoxic T lymphocytes and increased neoplastic cell apoptosis in colorectal carcinomas with microsatellite instability[J]. Am J Pathol, 1999, 154(6):1805-1813.
23. Herráiz M, Muñoz-Navas M. Recognition and management of hereditary colorectal cancer syndromes[J]. Rev Esp Enferm Dig, 2009, 101(2):125-132.
24. Koornstra JJ, Mourits MJ, Sijmons RH, et al. Management of extracolonic tumours in patients with Lynch syndrome[J]. LancetOncol, 2009, 10(4):400-408.
25. Haanstra JF, de Vos Tot Nederveen Cappel WH, Gopie JP, et al.Quality of life after surgery for colon cancer in patients with Lynch syndrome:partial versus subtotal colectomy[J]. Dis ColonRectum, 2012, 55(6):653-659.
26. de Vos tot Nederveen Cappel WH, Nagengast FM, Griffioen G, et al. Surveillance for hereditary nonpolyposis colorectal cancer:a long-term study on 114 families[J]. Dis Colon Rectum, 2002, 45(12):1588-1594.
27. , 123(2):444-449.
28. , 5(3):385-399.
  1. 1. Lynch HT, de la Chapelle A. Hereditary colorectal cancer[J]. N Engl J Med, 2003, 348(10):919-932.
  2. 2. Aaltonen LA, Peltomäki P, Mecklin JP, et al. Replication errorsin benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients[J]. Cancer Res, 1994, 54(7):1645-1648.
  3. 3. Peltomäki P, Lothe RA, Aaltonen LA, et al. Microsatellite insta-bility is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome[J]. Cancer Res, 1993, 53(24):5853-5855.
  4. 4. Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer[J]. Cell, 1993, 75(5):1027-1038.
  5. 5. Vasen HF, Mecklin JP, Khan PM, et al. The International Colla-borative Group on hereditary non-polyposis colorectal cancer (ICG-HNPCC)[J]. Dis Colon Rectum, 1991, 34(5):424-425.
  6. 6. Vasen HF, Watson P, Mecklin JP, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC[J]. Gastroenterology, 1999, 116(6):1453-1456.
  7. 7. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability[J]. J Natl Cancer Inst, 2004, 96(4):261-268.
  8. 8. Lynch HT, Lynch PM, Lanspa SJ, et al. Review of the lynch syndrome:history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications[J]. Clin Genet, 2009, 76(1):1-18.
  9. 9. Pino MS, Chung DC. Microsatellite instability in the management of colorectal cancer[J]. Expert Rev Gastroenterol Hepatol,.
  10. 10. 李建勝, 俞美萍, 莫善兢, 等. 遺傳性非息肉病性大腸癌18個家系64例分析[J]. 中國中西醫(yī)結(jié)合外科雜志, 2010, 16(6):619-623.
  11. 11. Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review[J]. Cancer, 1996, 78(6):1149-1167.
  12. 12. Drescher KM, Sharma P, Lynch HT. Current hypotheses on how microsatellite instability leads to enhanced survival of Lynch syndrome patients[J]. Clin Dev Immunol, 2010, 2010:170432.
  13. 13. 丁元升, 商嵩山, 張劍權(quán), 等. 新疆地區(qū)遺傳性非息肉病性大腸癌臨床病理特點分析[J]. 山東醫(yī)藥, 2010, 50(34):10-11.
  14. 14. Kalady MF, Lipman J, McGannon E, et al. Risk of colonic neoplasia after proctectomy for rectal cancer in hereditary nonpolyposis colorectal cancer[J]. Ann Surg, 2012, 255(6):1121-1125.
  15. 15. Watson P, Vasen HF, Mecklin JP, et al. The risk of extra-colonic,extra-endometrial cancer in the Lynch syndrome[J]. Int J Cancer,.
  16. 16. Yuan Y, Ye J, Zheng S, et al. Clinical and genetic features of International collaborative Group-hereditary nonpolyposis colorectal cancer families and suspected hereditary nonpolyposis colorectal cancer families[J]. Chin Med J, 2004, 117(5):748-752.
  17. 17. 李曉霞, 唐元新, 孫公平, 等. 中國東北地區(qū)遺傳性非息肉病性結(jié)直腸癌家系腸外腫瘤譜特點分析[J]. 中國普外基礎(chǔ)與臨床雜志, 2012, 19(3):288-291.
  18. 18. 徐肇翊, Brown L, 潘國偉, 等. 中國北方城市肺癌與生活方式及環(huán)境污染的關(guān)系[J]. 腫瘤, 1996, 16(4):506-508.
  19. 19. 吳菲, 林國楨, 張晉昕, 等. 我國惡性腫瘤發(fā)病現(xiàn)狀及趨勢[J]. 中國腫瘤, 2012, 21(4):81-85.
  20. 20. Buckowitz A, Knaebel HP, Benner A, et al. Microsatellite insta-bility in colorectal cancer is associated with local lymphocyte infilt-ration and low frequency of distant metastases[J]. Br J Cancer, 2005, 92(9):1746-1753.
  21. 21. Drescher KM, Sharma P, Watson P, et al. Lymphocyte recruitment into the tumor site is altered in patients with MSI-H colon cancer[J]. Fam Cancer, 2009, 8(3):231-239.
  22. 22. Dolcetti R, Viel A, Doglioni C, et al. High prevalence of activated intraepithelial cytotoxic T lymphocytes and increased neoplastic cell apoptosis in colorectal carcinomas with microsatellite instability[J]. Am J Pathol, 1999, 154(6):1805-1813.
  23. 23. Herráiz M, Muñoz-Navas M. Recognition and management of hereditary colorectal cancer syndromes[J]. Rev Esp Enferm Dig, 2009, 101(2):125-132.
  24. 24. Koornstra JJ, Mourits MJ, Sijmons RH, et al. Management of extracolonic tumours in patients with Lynch syndrome[J]. LancetOncol, 2009, 10(4):400-408.
  25. 25. Haanstra JF, de Vos Tot Nederveen Cappel WH, Gopie JP, et al.Quality of life after surgery for colon cancer in patients with Lynch syndrome:partial versus subtotal colectomy[J]. Dis ColonRectum, 2012, 55(6):653-659.
  26. 26. de Vos tot Nederveen Cappel WH, Nagengast FM, Griffioen G, et al. Surveillance for hereditary nonpolyposis colorectal cancer:a long-term study on 114 families[J]. Dis Colon Rectum, 2002, 45(12):1588-1594.
  27. 27. , 123(2):444-449.
  28. 28. , 5(3):385-399.
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