MSI结直肠癌的研究进展

doi:10.11904/j.issn.1002-3070.2017.04.017

Abstract

Abstract: Colorectal cancer is one of the most common malignant tumors,with the improvement of living standards and eating habits of Westernization.The incidence and mortality of colorectal cancer are on the rise in China.The development of colorectal cancer is a multi-step,multi-gene involved in the process.At present,chromosome instability(CIN)and microsatellite instability(MSI)are considered to be the main genetic pathways in colorectal cancer.This article reviews research progress of MSI colorectal cancer in clinical pathology and molecular characteristics.

Key words: MSI, Mucinous adenocarcinoma, PD-1, CIMP, BRAF

CLC Number:

R735.34

MA Yue,TAO Ji. Research progress of MSI colorectal cancer[J]. PRACTICAL ONCOLOGY JOURNAL, 2017, 31(4): 376-380.

References

1 Samadder NJ,Vierkant RA,Tillmans LS,et al.Associations between colorectal cancer molecular markers and pathways with clinicopathologic features in older women[J].Gastroenterology,2013,145(2):348-556.
2 Gatalica Z,Vranic S,Xiu J,et al.High microsatellite instability(MSI-H)colorectal carcinoma:a brief review of predictive biomarkers in the era of personalized medicine[J].Fam Cancer,2016,15(3):405-412.
3 Lochhead P,Kuchiba A,Imamura Y,et al.Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication[J].J Natl Cancer Inst,2013,105(15):1151.
4 Kim JH,Kang GH.Molecular and prognostic heterogeneity of microsatellite-unstable colorectal cancer[J].World J Gastroenterol,2014,20(15):4230-4243.
5 Chen CH,Jiang SS,Hsieh LL,et al.DNA methylation identifies loci distinguishing hereditary nonpolyposis colorectal cancer without germ line MLH1/MSH2 mutation from sporadic colorectal cancer[J].Clin Transl Gastroenterol,2016,7(12):208.
6 Peltomki P.Update on Lynch syndrome genomics[J].Fam Cancer,2016,15(3):385-393.
7 Ward RL,Dobbins T,Lindor NM,et al.Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the colon cancer family registry[J].Genet Med,2013,15(1):25-35.
8 Xiao Y,Freeman GJ.The microsatellite instable subset of colorectal cancer is a particularly good candidate for checkpoint blockade immunotherapy[J].Cancer Discov,2015,5(1):16-18.
9 Lynch HT,Snyder CL,Shaw TG,et al.Milestones of Lynch syndrome:1895-2015[J].Nat Rev Cancer,2015,15(3):181-194.
10 Tariq K,Ghias K.Colorectal cancer carcinogenesis:a review of mechanisms[J].Cancer Biol Med,2016,13(1):120.
11 Hitchins MP,Wong JJL,Suthers G,et al.Inheritance of a cancer-associated MLH1 germ line epimutation[J].N Engl J Med,2007,356(7):697-705.
12 Ligtenberg MJL,Kuiper RP,Chan TL,et al.Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1[J].Nat Genet,2009,41(1):112-117.
13 Zhang J,Lindroos A,Ollila S,et al.Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers[J].Cancer Res,2006,66(2):659-664.
14 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(1):170432.
15 Zoratto F,Rossi L,Verrico M,et al.Focus on genetic and epigenetic events of colorectal cancer pathogenesis:implications for molecular diagnosis[J].Tumour Biol,2014,35(7):6195-6206.
16 Hugen N,Verhoeven RHA,Radema SA,et al.Prognosis and value of adjuvant chemotherapy in stage III mucinous colorectal carcinoma[J].Ann Oncol,2013,24(11):2819-2824.
17 Scarpa M,Ruffolo C,Canal F,et al.Mismatch repair gene defects in sporadic colorectal cancer enhance immune surveillance[J].Oncotarget,2015,6(41):43472-43482.
18 Zong L,Abe M,Ji J,et al.Tracking the correlation between CpG island methylator phenotype and other molecular features and clinicopathological features in human colorectal cancers:a systematic review and meta-analysis[J].Clin Transl Gastroenterol,2016,7(3):151.
19 Tanaka H,Deng G,Matsuzaki K,et al.BRAF mutation,CpG island methylator phenotype and microsatellite instability occur more frequently and concordantly in mucinous than non‐mucinous colorectal cancer[J].Int J Cancer,2006,118(11):2765-2771.
20 Yoon YS,Kim J,Hong SM,et al.Clinical implications of mucinous components correlated with microsatellite instability in patients with colorectal cancer.[J].Colorectal Dis,2015,17(8):161-167.
21 Akiyama S,Kikuchi D,Mitani T,et al.A case of mucinous adenocarcinoma in the setting of chronic colitis associated with intestinal spirochetosis and intestinal stricture[J].Medicine,2015,94(4):e493.
22 Dudley JC,Lin MT,Le DT,et al.Microsatellite instability as a biomarker for PD-1 blockade[J].Clin Cancer Res,2016,22(4):813-820.
23 Bae JM,Kim JH,Kang GH.Epigenetic alterations in colorectal cancer:the CpG island methylator phenotype[J].Histol Histopathol,2013,28(5):585-595.
24 Llosa NJ,Cruise M,Tam A,et al.The vigorous immune microenvironment of microsatellite instable colon cancer is balanced by multiple counter-inhibitory checkpoints[J].Cancer Discov,2015,5(1):43-51.
25 Gandini S,Massi D,Mandalà M.PD-L1 expression in cancer patients receiving anti PD-1/PD-L1 antibodies:A systematic review and meta-analysis[J].Crit Rev Oncol Hematol,2016,100:88-98.
26 Schwitalle Y,Kloor M,Eiermann S,et al.Immune response against frame shift-induced neopeptides in HNPCC patients and healthy HNPCC mutation carriers[J].Gastroenterology,2008,134(4):988-997.
27 Yuan L,Chi Y,Chen W,et al.Immunohistochemistry and microsatellite instability analysis in molecular subtyping of colorectal carcinoma based on mismatch repair competency[J].Int J Clin Exp Med,2015,8(11):20988-21000.
28 Lynch HT,DrescherK,Knezetic J,et al.Genetics,biomarkers,hereditary cancer syndrome diagnosis,heterogeneity and treatment:a review[J].Curr Treat Options Oncol,2014,15(3):429-442.
29 Herman JG,Umar A,Polyak K,et al.Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma[J].Proc Natl Acad Sci U S A,1998,95(12):6870-6875.
30 Kim JH,Bae JM,Cho NY,et al.Distinct features between MLH1-methylated and unmethylated colorectal carcinomas with the CpG island methylator phenotype:implications in the serrated neoplasia pathway[J].Oncotarget,2016,7(12):14095-14111.
31 Ward RL,Cheong K,Ku SL,et al.Adverse prognostic effect of methylation in colorectal cancer is reversed by microsatellite instability[J].J Clin Oncol,2003,21(20):3729-3736.
32 Rhee YY,Kim MJ,Bae JM,et al.Clinical outcomes of patients with microsatellite-unstable colorectal carcinomas depend on L1 methylation level[J].Ann Surg Oncol,2012,19(11):3441-3448.
33 Rosty C,Williamson EJ,Clendenning M,et al.Re:Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication[J].J Natl Cancer Inst,2014,106(8):1151-1156.
34 Cohen R,Svrcek M,Dreyer C,et al.New therapeutic opportunities based on DNA mismatch repair and BRAF status in metastatic colorectal cancer[J].Curr Oncol Rep,2016,18(3):1-10.
35 Venderbosch S,Nagtegaal ID,Maughan TS,et al.Mismatch repair status and BRAF mutation status in metastatic colorectal cancer patients:a pooled analysis of the CAIRO,CAIRO2,COIN,and FOCUS studies[J].Clin Cancer Res,2014,20(20):5322-5330.
36 Dienstmann R,Guinney J,Delorenzi M,et al.Colorectal cancer subtyping consortium(CRCSC)identification of a consensus of molecular subtypes[J].Gondwana Res,2014,25(4):1484-1500.
37 Taieb J,Le Malicot K,Penault-Llorca FM,et al.Prognostic value of BRAF V600E and KRAS exon 2 mutations in microsatellite stable(MSS),stage III colon cancers(CC)from patients(pts)treated with adjuvant FOLFOX+/-cetuximab:A pooled analysis of 3934 pts from the PETACC8 and N0147 trials[J].J Clin Oncol,2015,33(15):3507.

[1]	LI Wenqi,GENG Jingshu. Research progress of RAS,RAF mutation and MSI status in the treatment of colorectal cancer [J]. PRACTICAL ONCOLOGY JOURNAL, 2018, 32(4): 371-376.
[2]	WANG Zhiguo, WU Xiaodan, ZHAN Ying, ZHANG Tong, ZHANG Guoxu. The correlation between glucose metabolism and BRAF mutation in ¹⁸F-FDG PET/CT imaging of papillary thyroid carcinoma [J]. PRACTICAL ONCOLOGY JOURNAL, 2017, 31(6): 519-523.
[3]	HUANG Chenglu, HAN Shaohui, XU Suqin, ZHAO Jungang. The research progress of primary pulmonary mucinous adenocarcinoma [J]. PRACTICAL ONCOLOGY JOURNAL, 2017, 31(5): 463-467.
[4]	ZHANG Qun,LI Duojie. Research progress of PD-1/PD-L1 in esophageal squamous cells [J]. PRACTICAL ONCOLOGY JOURNAL, 2017, 31(3): 250-253.
[5]	CUI Shen, JI Hongfei, WANG Bei, HANG Shiyu. Expression of protein BRCA1, p53 and Ki67 and survival analysis in epithelial ovarian cancer [J]. PRACTICAL ONCOLOGY JOURNAL, 2009, 23(2): 134-138.

Research progress of MSI colorectal cancer

PDF (PC)

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 5

Recommended Articles

Metrics

Comments