微卫星不稳定性在散发性结直肠癌中的研究现状及展望
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摘要
我国结直肠癌的发病率和死亡率分别位居恶性肿瘤的第3和第5位。30年来其发病率年均上升3%~4%,其中散发性结直肠癌约占85%,其病因和发病机制十分复杂,其中微卫星不稳定性(microsatellite instability,MSI)与散发性结直肠癌发生发展、预后以及化疗药物使用密切相关。本文将围绕MSI与散发性结直肠癌的预后、化疗药物相关性及其检测方法进行综述。
In China,the incidence and mortality of colorectal cancer ranks third and fifth among malignant tumors,respectively.Its incidence has increased by 3% to 4% annually over the past 30 years,of which sporadic colorectal cancer accounts for about 85%.Its etiology and pathogenesis are very complicated.Microsatellite instability(MSI)is one of the most important pathogenic factors.MSI is closely related to the development and prognosis of sporadic colorectal cancer and the use of chemotherapy drugs.This article will describe the correlation between MSI and the prognosis,chemotherapeutic drugs of sporadic colorectal cancer,as well as MSI detection methods.
In China,the incidence and mortality of colorectal cancer ranks third and fifth among malignant tumors,respectively.Its incidence has increased by 3% to 4% annually over the past 30 years,of which sporadic colorectal cancer accounts for about 85%.Its etiology and pathogenesis are very complicated.Microsatellite instability(MSI)is one of the most important pathogenic factors.MSI is closely related to the development and prognosis of sporadic colorectal cancer and the use of chemotherapy drugs.This article will describe the correlation between MSI and the prognosis,chemotherapeutic drugs of sporadic colorectal cancer,as well as MSI detection methods.
引文
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2陈万青,张思维,郑荣寿,等.中国2012年恶性肿瘤发病和死亡分析.中国肿瘤,2016,25:1-8.
3 Romanowicz-Makowska H,Smolarz B,Langner E,et al.Analysis of microsatellite instability and BRCA1 mutations in patients from hereditary nonpolyposis colorectal cancer(HNPCC)family.Pol J Pathol,2005,56:21-26.
4 Pancione M,Remo A,Colantuoni V.Genetic and epigenetic events generate multiple pathways in colorectal cancer progression.Pathol Res Int,2012,2012:509348.DOI:10.1155/2012/509348.
5 Knudsen N,nielsen FC,vinther I,et al.Nuclear loca1ization of human DNA mismatch repair protein exonuclease 1(hExo1).Nucleic Acids Res,2007,35:2609.DOI:10.1093/nar/gkl1166.
6 Miesfeldd R,Krystal M,Arnheim N.A member for a new found between the human D and B globin genes.Nucleic Acids Res,1981,9:59.
7 Ionov Y,Peinado MA,Malkhosyan S,et al.Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis.Nature,1993,363:558-561.
8 Fukushima T,Takenoshita S.Colorectal carcinogenesis.Fukushima J Med Sci,2001,47:1-11.DOI:10.5387/fms.47.1.
9 Iacopetta B,Grieu F,Amanuel B.Microsatellite instability in colorectal cancer.Asia Pac J Clin Oncol,2010,6:260-269.DOI:10.1111/j.1743-7563.2010.01335.x.
10 Thibodeau SN,Bren G,Sehaid D.Microsatellite instability in cancer of the Proximal colon.Seience,1993,260:816-819.
11 Kane MF,Loda M,Gaida GM,et al.Methylation of the hM-LH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines.Cancer Res,1997,57:808-811.
12董锐增.散发性多原发大肠癌微卫星不稳定研究.肿瘤学杂志,2005,11:363-369.
13 Sarli L,Bottarelli L,Azzoni C,et al.Loss of p27 expression and microsatellite instability in sporadic colorectal cancer.Surg Oncol,2006,15:97-106.DOI:10.1016/j.suronc.2006.09.002.
14 Dove-Edwin I,de Jong AE,Adams J,et al.Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome.Gastroenterology,2006,130:1995-2000.DOI:10.1053/j.gastro.2006.03.018.
15 Sinicrope FA,Rego RL,Garrity-Park MM,et al.Alterations in cell proliferation and apoptosis in colon cancer with microsatellite instability.Int J Cancer,2007,120:1232-1238.DOI:10.1002/ijc.22429.
16 Deng G,Bell I,Crawley S,et al.BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1,but not in hereditary nonpolyposis colorectal cancer.Clin Cancer Res,2004,10:191-195.
17 Domingo E,Laiho P,Ollikainen M,et al.BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.J Med Genet,2004,41:664-668.DOI:10.1136/jmg.2004.020651.
18 Hall G,Clarkson A,Shi A,et al.Immunohistochemistry for PMS2 and MSH6 alone can replace a four antibody panel for mismatch repair deficiency screening in colorectal adenocarcinoma.Pathology,2010,42:409-413.DOI:10.3109/00313025.2010.493871.
19 Fearon ER.Molecular genetics of colorectal cancer.Annu Rev Pathol,2011,6:479-507.DOI:10.1146/annurev-pathol-011110-130235.
20 Karahan B,Argon A,Yildorom M,et al.Relationship between MLH-1,MSH-2,PMS-2,MSH-6 expression and clinicopathological features in colorectalcancer.Int J Clin Exp Pathol,2015,8:4044-4053.
21于鹏飞,费翔,魏学明,等.错配修复蛋白hMLH1、hMSH2和hMSH6在散发性结直肠癌中的表达及意义.中华普通外科学文献,2015,9:193-197.
22汪加亮,程勇.微卫星不稳定与结直肠癌临床研究进展.现代医药卫生,2016,8:1195-1198.
23 Hurtado C,Wielandt AM,Zarate AJ,et al.Molecular analysis of sporadic colon cancer.Rev Med Chil,2015,143:310-319.DOI:10.4067/S0034-98872015000300005.
24 Popat S,Hubner R,Houlston RS.Systematic review of microsatellite instability and colorectal cancer prognosis.J Clin Oncol,2005,23:609-618.DOI:10.1200/JCO.2005.01.086.
25 Roth AD,Delorenzi M,Tejpar S,et al.Integrated analysis of molecular and clinical prognostic factors in stageⅡ/Ⅲcolon cancer.J Natl Cancer Inst,2012,104:1635-1646.DOI:10.1093/jnci/djs427.
26 Kim CG,Ahn JB,Jung M,et al.Effects of microsatelliteinstability on recurrence patterns and outcomes in colorectal cancers.Br J Cancer,2016,115:25-33.DOI:10.1038/bjc.2016.161.
27 Sargent DJ,MarsoniS,MongesG,et al.Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracilbased adjuvant therapy in colon cancer.J Clin Oncol,2010,28:3219-3226.DOI:10.1200/JCO.2009.27.1825.
28 Vilar E,Gruber SB.Microsatellite instability in colorectal cancer-the stable evidence.Nat Rev Clin Oncol,2010,7:153-162.DOI:10.1038/nrclinonc.2009.237.
29 Jover R,Zapater P,Castells A,et al.The efficacy of adjuvant chemotherapy with 5-fluorouracil in colorectal cancer depends on the mismatch repair status.Eur J Cancer,2009,45:365-373.DOI:10.1016/j.ejca.2008.07.016.
30 Guastadisegni C,Colafranceschi M,Ottini L,et al.Microsatellite instability as a marker of prognosis and response to therapy:a meta-analysis of colorectal cancer survival data.Eur J Cancer,2010,46:2788-2798.DOI:10.1016/j.ejca.2010.05.009.
31 StrmbuV,Garofil D,Pop F,et al.Microsatellite instability in the management of stageⅡcolorectal patients.Chirurgia(Bucur),2013,108:816-821.
32 Hutchins G,Southward K,Handley K,et al.Value of mismatch repair,KRAS,and BRAF mutations in predicting recurrence and benefits from chemotherapy in colorectal cancer.J Clin Oncol,2011,29:1261-1270.DOI:10.1200/JCO.2010.30.1366.
33 Kim ST,Lee J,Park SH,et al.Clinical impact of microsatellite instability in colon cancer following adjuvant FOLFOX therapy.Cancer Chemother Pharmacol,2010,66:659-667.DOI:10.1007/s00280-009-1206-3.
34 Zaanan A,Cuilliere-Dartigues P,Guilloux A,et al.Impact of p53 expression and microsatellite instability on stageⅢcolon cancer disease-free survival in patients treated by 5-fluorouracil and leucovorin with or without oxaliplatin.Ann Oncol,2010,21:772-780.DOI:10.1093/annonc/mdp383.
35 Stevenson JB,Hymas WC,Hillyard DR.A novel capillary electrophoresis-based multiplex PCR assay for detection of respiratory pathogens.Ann Clin Lab Sci,2011,41:33-38.
36 Hegde M,Ferber M,Mao R,et al.ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer(Lynch syndrome,familial adenomatous polyposis,and MYH-associated polyposis).Genet Med,2014,16:101-116.DOI:10.1038/gim.2013.166.
37中国临床肿瘤学会(CSCO)结直肠癌诊疗指南工作组.中国临床肿瘤学会(CSCO)结直肠癌诊疗指南(2017版)[EB/OL].[2017-10-13].
38 Samowitz WS.Evaluation of colorectal cancers for Lynch syndrome:practical molecular diagnostics for surgical pathologists.Mod Pathol,2015,28:109-113.DOI:10.1038/modpathol.2014.127.
39 Palomaki GE,McClain MR,Melillo S,et al.EGAPP supplementary evidence review:DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome.Genet Med,2009,11:42-65.DOI:10.1097/GIM.0b013e31818fa2db.
40 Cho J,Lee J,Bang H,et al.Programmed cell death-ligand 1expression predicts survival in patients with gastric carcinoma with microsatellite instability.Oncotarget,2017,8:13320-13328.DOI:10.18632/oncotarget.14519.
41 Howitt BE,Strickland KC,Sholl LM,et al.Clear cell ovarian cancers with microsatellite instability:a unique subset of ovarian cancers with increased tumor-infiltrating lymphocytes and PD-1/PD-L1 expression.Oncoimmunol,2017,6:e1277308.DOI:10.1080/2162402X.2016.1277308.
42 Naboush A,Roman CA,Shapira I.Immune checkpoint inhibitors in malignancies with mismatch repair deficiency:a review of the state of the current knowledge.J Investig Med,2017,65:754-758.DOI:10.1136/jim-2016-000342.
2陈万青,张思维,郑荣寿,等.中国2012年恶性肿瘤发病和死亡分析.中国肿瘤,2016,25:1-8.
3 Romanowicz-Makowska H,Smolarz B,Langner E,et al.Analysis of microsatellite instability and BRCA1 mutations in patients from hereditary nonpolyposis colorectal cancer(HNPCC)family.Pol J Pathol,2005,56:21-26.
4 Pancione M,Remo A,Colantuoni V.Genetic and epigenetic events generate multiple pathways in colorectal cancer progression.Pathol Res Int,2012,2012:509348.DOI:10.1155/2012/509348.
5 Knudsen N,nielsen FC,vinther I,et al.Nuclear loca1ization of human DNA mismatch repair protein exonuclease 1(hExo1).Nucleic Acids Res,2007,35:2609.DOI:10.1093/nar/gkl1166.
6 Miesfeldd R,Krystal M,Arnheim N.A member for a new found between the human D and B globin genes.Nucleic Acids Res,1981,9:59.
7 Ionov Y,Peinado MA,Malkhosyan S,et al.Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis.Nature,1993,363:558-561.
8 Fukushima T,Takenoshita S.Colorectal carcinogenesis.Fukushima J Med Sci,2001,47:1-11.DOI:10.5387/fms.47.1.
9 Iacopetta B,Grieu F,Amanuel B.Microsatellite instability in colorectal cancer.Asia Pac J Clin Oncol,2010,6:260-269.DOI:10.1111/j.1743-7563.2010.01335.x.
10 Thibodeau SN,Bren G,Sehaid D.Microsatellite instability in cancer of the Proximal colon.Seience,1993,260:816-819.
11 Kane MF,Loda M,Gaida GM,et al.Methylation of the hM-LH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines.Cancer Res,1997,57:808-811.
12董锐增.散发性多原发大肠癌微卫星不稳定研究.肿瘤学杂志,2005,11:363-369.
13 Sarli L,Bottarelli L,Azzoni C,et al.Loss of p27 expression and microsatellite instability in sporadic colorectal cancer.Surg Oncol,2006,15:97-106.DOI:10.1016/j.suronc.2006.09.002.
14 Dove-Edwin I,de Jong AE,Adams J,et al.Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome.Gastroenterology,2006,130:1995-2000.DOI:10.1053/j.gastro.2006.03.018.
15 Sinicrope FA,Rego RL,Garrity-Park MM,et al.Alterations in cell proliferation and apoptosis in colon cancer with microsatellite instability.Int J Cancer,2007,120:1232-1238.DOI:10.1002/ijc.22429.
16 Deng G,Bell I,Crawley S,et al.BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1,but not in hereditary nonpolyposis colorectal cancer.Clin Cancer Res,2004,10:191-195.
17 Domingo E,Laiho P,Ollikainen M,et al.BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.J Med Genet,2004,41:664-668.DOI:10.1136/jmg.2004.020651.
18 Hall G,Clarkson A,Shi A,et al.Immunohistochemistry for PMS2 and MSH6 alone can replace a four antibody panel for mismatch repair deficiency screening in colorectal adenocarcinoma.Pathology,2010,42:409-413.DOI:10.3109/00313025.2010.493871.
19 Fearon ER.Molecular genetics of colorectal cancer.Annu Rev Pathol,2011,6:479-507.DOI:10.1146/annurev-pathol-011110-130235.
20 Karahan B,Argon A,Yildorom M,et al.Relationship between MLH-1,MSH-2,PMS-2,MSH-6 expression and clinicopathological features in colorectalcancer.Int J Clin Exp Pathol,2015,8:4044-4053.
21于鹏飞,费翔,魏学明,等.错配修复蛋白hMLH1、hMSH2和hMSH6在散发性结直肠癌中的表达及意义.中华普通外科学文献,2015,9:193-197.
22汪加亮,程勇.微卫星不稳定与结直肠癌临床研究进展.现代医药卫生,2016,8:1195-1198.
23 Hurtado C,Wielandt AM,Zarate AJ,et al.Molecular analysis of sporadic colon cancer.Rev Med Chil,2015,143:310-319.DOI:10.4067/S0034-98872015000300005.
24 Popat S,Hubner R,Houlston RS.Systematic review of microsatellite instability and colorectal cancer prognosis.J Clin Oncol,2005,23:609-618.DOI:10.1200/JCO.2005.01.086.
25 Roth AD,Delorenzi M,Tejpar S,et al.Integrated analysis of molecular and clinical prognostic factors in stageⅡ/Ⅲcolon cancer.J Natl Cancer Inst,2012,104:1635-1646.DOI:10.1093/jnci/djs427.
26 Kim CG,Ahn JB,Jung M,et al.Effects of microsatelliteinstability on recurrence patterns and outcomes in colorectal cancers.Br J Cancer,2016,115:25-33.DOI:10.1038/bjc.2016.161.
27 Sargent DJ,MarsoniS,MongesG,et al.Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracilbased adjuvant therapy in colon cancer.J Clin Oncol,2010,28:3219-3226.DOI:10.1200/JCO.2009.27.1825.
28 Vilar E,Gruber SB.Microsatellite instability in colorectal cancer-the stable evidence.Nat Rev Clin Oncol,2010,7:153-162.DOI:10.1038/nrclinonc.2009.237.
29 Jover R,Zapater P,Castells A,et al.The efficacy of adjuvant chemotherapy with 5-fluorouracil in colorectal cancer depends on the mismatch repair status.Eur J Cancer,2009,45:365-373.DOI:10.1016/j.ejca.2008.07.016.
30 Guastadisegni C,Colafranceschi M,Ottini L,et al.Microsatellite instability as a marker of prognosis and response to therapy:a meta-analysis of colorectal cancer survival data.Eur J Cancer,2010,46:2788-2798.DOI:10.1016/j.ejca.2010.05.009.
31 StrmbuV,Garofil D,Pop F,et al.Microsatellite instability in the management of stageⅡcolorectal patients.Chirurgia(Bucur),2013,108:816-821.
32 Hutchins G,Southward K,Handley K,et al.Value of mismatch repair,KRAS,and BRAF mutations in predicting recurrence and benefits from chemotherapy in colorectal cancer.J Clin Oncol,2011,29:1261-1270.DOI:10.1200/JCO.2010.30.1366.
33 Kim ST,Lee J,Park SH,et al.Clinical impact of microsatellite instability in colon cancer following adjuvant FOLFOX therapy.Cancer Chemother Pharmacol,2010,66:659-667.DOI:10.1007/s00280-009-1206-3.
34 Zaanan A,Cuilliere-Dartigues P,Guilloux A,et al.Impact of p53 expression and microsatellite instability on stageⅢcolon cancer disease-free survival in patients treated by 5-fluorouracil and leucovorin with or without oxaliplatin.Ann Oncol,2010,21:772-780.DOI:10.1093/annonc/mdp383.
35 Stevenson JB,Hymas WC,Hillyard DR.A novel capillary electrophoresis-based multiplex PCR assay for detection of respiratory pathogens.Ann Clin Lab Sci,2011,41:33-38.
36 Hegde M,Ferber M,Mao R,et al.ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer(Lynch syndrome,familial adenomatous polyposis,and MYH-associated polyposis).Genet Med,2014,16:101-116.DOI:10.1038/gim.2013.166.
37中国临床肿瘤学会(CSCO)结直肠癌诊疗指南工作组.中国临床肿瘤学会(CSCO)结直肠癌诊疗指南(2017版)[EB/OL].[2017-10-13].
38 Samowitz WS.Evaluation of colorectal cancers for Lynch syndrome:practical molecular diagnostics for surgical pathologists.Mod Pathol,2015,28:109-113.DOI:10.1038/modpathol.2014.127.
39 Palomaki GE,McClain MR,Melillo S,et al.EGAPP supplementary evidence review:DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome.Genet Med,2009,11:42-65.DOI:10.1097/GIM.0b013e31818fa2db.
40 Cho J,Lee J,Bang H,et al.Programmed cell death-ligand 1expression predicts survival in patients with gastric carcinoma with microsatellite instability.Oncotarget,2017,8:13320-13328.DOI:10.18632/oncotarget.14519.
41 Howitt BE,Strickland KC,Sholl LM,et al.Clear cell ovarian cancers with microsatellite instability:a unique subset of ovarian cancers with increased tumor-infiltrating lymphocytes and PD-1/PD-L1 expression.Oncoimmunol,2017,6:e1277308.DOI:10.1080/2162402X.2016.1277308.
42 Naboush A,Roman CA,Shapira I.Immune checkpoint inhibitors in malignancies with mismatch repair deficiency:a review of the state of the current knowledge.J Investig Med,2017,65:754-758.DOI:10.1136/jim-2016-000342.