Classification of colorectal cancer based on correlation of clinical, morphological and molecular features
Tóm tắt
Over the last 20 years it has become clear that colorectal cancer (CRC) evolves through multiple pathways. These pathways may be defined on the basis of two molecular features: (i) DNA microsatellite instability (MSI) status stratified as MSI‐high (MSI‐H), MSI‐low (MSI‐L) and MS stable (MSS), and (ii) CpG island methylator phenotype (CIMP) stratified as CIMP‐high, CIMP‐low and CIMP‐negative (CIMP‐neg). In this review the morphological correlates of five molecular subtypes are outlined: Type 1 (CIMP‐high/MSI‐H/
Từ khóa
Tài liệu tham khảo
Grady WM, 1998, Mutation of the type II transforming growth factor‐β receptor is coincident with the transformation of human colon adenomas to malignant carcinomas, Cancer Res., 58, 3101
Mirabelli‐Primdahl L, 1999, Beta‐catenin mutations are specific for colorectal carcinomas with microsatellite instability but occur in endometrial carcinomas irrespective of mutator pathway, Cancer Res., 59, 3346
Miyaki M, 1999, Frequent mutation of β‐Catenin and APC genes in primary colorectal tumors from patients with hereditary nonpolyposis colorectal cancer, Cancer Res., 59, 4506
Johnson V, 2004, Exon 3 beta‐catenin mutations are specifically associated with colorectal carcinomas in the hereditary non‐polyposis colorectal cancer syndrome, Gut, 53, 264
Samowitz WS, 1999, β‐catenin mutations are more frequent in small colorectal adenomas than in larger adenomas and invasive carcinomas, Cancer Res., 59, 1442
Gazzoli I, 2002, A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the hMLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability‐high tumor, Cancer Res., 62, 3925
Sparks AB, 1998, Mutational analysis of the APC/beta‐catenin/Tcf pathway in colorectal cancer, Cancer Res., 58, 1130
Esteller M, 2000, Analysis of adenomatous polyposis coli promoter hypermethylation in human cancer, Cancer Res., 60, 4366
Chan TL, 2003, BRAF and KRAS mutations in colorectal hyperplastic polyps and serrated adenomas, Cancer Res., 63, 4878
Wang L, 2003, BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair, Cancer Res., 63, 5209
Kane MF, 1997, Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair‐defective human tumor cell lines, Cancer Res., 57, 808
Whitehall VLJ, 2002, Morphological and molecular heterogeneity within non‐microsatellite instability‐high colorectal cancer, Cancer Res., 62, 6011
Van Rijnsoever M, 2003, CpG island methylator phenotype is an independent predictor of survival benefit from 5‐fluorouracil in stage III colorectal cancer, Clin. Cancer Res., 9, 2898
Goel A, 2003, Characterization of sporadic colon cancer by patterns of genomic instability, Cancer Res., 63, 1608
Halford S, 2002, Low‐level microsatellite instability occurs in most colorectal cancers and is a nonrandomly distributed quantitative trait, Cancer Res., 62, 53
Mori Y, 2003, The impact of microsatellite instability in the molecular phenotype of colorectal tumors, Cancer Res., 63, 4577
Whitehall VLJ, 2001, Methylation of 0‐6‐Methylguanine DNA Methyltransferase characterises a subset of colorectal cancer with low level DNA microsatellite instability, Cancer Res., 61, 827
Mahooti S, 2006, MLH1 and PMS2 protein expression in 103 colorectal carcinomas with MLH1 promoter methylation and without MLH1 or PMS2 germline mutation, Lab. Invest., 86, 113A
Esteller M, 2000, Inactivation of the DNA repair gene 0 6 ‐Methylguanine‐DNA Methyltransferase by promoter hypermethylation is associated with G to A mutations in K‐ras in colorectal tumorigenesis, Cancer Res., 60, 2368
Fink D, 1998, The role of DNA mismatch repair in drug resistance, Clin. Cancer Res., 4, 1
Shen L, 2006, Two distinct DNA methylator phenotypes in colorectal cancer, Proc. Am. Assoc Cancer Res.
Frazier ML, 2003, Association of the CpG island methylator phenotype with family history of cancer in patients with colorectal cancer, Cancer Res., 63, 4805
Vandrovcova J, 2006, BRAF mutations suggest a new familial colorectal cancer syndrome, Proc. Am. Assoc. Cancer Res.
Samowitz WS, 2006, Smoking is asociated with the CpG island methylator phenotype and V600E BRAF mutations in colon cancer, Proc. Am. Assoc. Cancer Res.
Morimoto LM, 2002, Risk factors for hyperplastic and adenomatous polyps: evidence for malignant potential, Cancer Epidemiol. Biomark Prev., 11, 1012
Issa J‐P, 2001, Accelerated age‐related CpG island methylation in ulcerative colitis, Cancer Res., 61, 3573
Hamilton SR, 2000, World Health Organization classification of tumours. Pathology and genetics.
Biemer‐Hüttmann A‐E, 2000, Mucin core protein expression in colorectal cancers with high levels of microsatellite instability indicates a novel pathway of morphogenesis, Clin. Cancer Res., 6, 1909
Jass JR, 1994, Pathology of hereditary non‐polyposis colorectal cancer, Anticancer Res., 14, 1631
Kim H, 1994, Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences, Am. J. Pathol., 145, 148
Connelly JH, 1991, Exophytic signet‐ring cell carcinoma of the colorectum, Arch. Pathol. Lab. Med., 115, 134
Hlubek F, 2001, Expression of the invasion factor laminin gamma2 in colorectal carcinomas is regulated by β‐catenin, Cancer Res., 61, 8089
Weinstein RS, 1991, Relationship of the expression of the multidrug resistance gene product (P‐glycoprotein) in human colon carcinoma to local tumor aggressiveness and lymph node metastasis, Cancer Res., 51, 2720
Krishna M, 1996, Histopathologic features associated with microsatellite instability in colorectal carcinomas, Gastroenterology, 110, A546
Graham DM, 1990, Crohn's‐like lymphoid reaction and colorectal carcinoma: a potential histologic prognosticator, Mod. Pathol., 3, 332