Comprehensive mutation analysis in colorectal flat adenomas

PLoS ONE

Volumn 7, Issue 7, 2012, Pages

  Voorham, Quirinus J M ^a   Carvalho, Beatriz ^a   Spiertz, Angela J ^b   Claes, Bart ^c   Mongera, Sandra ^a   van Grieken, Nicole C T ^a   Grabsch, Heike ^d   Kliment, Martin ^e   Rembacken, Bjorn ^f   van de Wiel, Mark A ^a   Quirke, Philip ^d   Mulder, Chris J J ^a   Lambrechts, Diether ^c   van Engeland, Manon ^b   Meijer, Gerrit A ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d UNIVERSITY OF LEEDS   (United Kingdom)

^e Vitkovice vyzkum a vyvoj technicke aplikace as   (Czech Republic)

^f LEEDS GENERAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN; B RAF KINASE; BETA CATENIN; K RAS PROTEIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN KINASE LKB1; SMAD4 PROTEIN;

ADULT; AGED; APC GENE; ARTICLE; BETA CATENIN GENE; BRAF GENE; COLORECTAL ADENOMA; EGFR GENE; FBXW7 GENE; FEMALE; FLAT ADENOMA; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MAP2K4 GENE; MUTATIONAL ANALYSIS; MUTATOR GENE; ONCOGENE K RAS; ONCOGENE N RAS; PDGFRA GENE; PHENOTYPE; PIK3CA GENE; PIK3R1 GENE; PTEN GENE; RETROSPECTIVE STUDY; SIGNAL TRANSDUCTION; SMAD4 GENE; STK11 GENE; TUMOR GENE; TUMOR LOCALIZATION;

ADENOMA; ADENOMATOUS POLYPOSIS COLI PROTEIN; ADULT; AGED; AGED, 80 AND OVER; BETA CATENIN; CELL CYCLE PROTEINS; COLORECTAL NEOPLASMS; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; F-BOX PROTEINS; FEMALE; GENOTYPING TECHNIQUES; HUMANS; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTATION; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RAS PROTEINS; UBIQUITIN-PROTEIN LIGASES;

EID: 84864609076     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0041963     Document Type: Article

References (56)

1. Muto T, Kamiya J, Sawada T, Konishi F, Sugihara K, et al. ((1985)) Small "flat adenoma" of the large bowel with special reference to its clinicopathologic features. Dis Colon Rectum 28:: 847--851.
2. Kudo S, Tamura S, Hirota S, Sano Y, Yamano H, et al. ((1995)) The problem of de novo colorectal carcinoma. Eur J Cancer 31A:: 1118--1120.
3. Togashi K, Konishi F, Koinuma K, Ishitsuka T, Kojima M, et al. ((2003)) Flat and depressed lesions of the colon and rectum: Pathogenesis and clinical management. Ann Acad Med Singapore 32:: 152--158.
4. Bianco MA, Cipolletta L, Rotondano G, Buffoli F, Gizzi G, et al. ((2010)) Prevalence of nonpolypoid colorectal neoplasia: an Italian multicenter observational study. Endoscopy 42:: 279--285.
5. Rembacken BJ, Fujii T, Cairns A, Dixon MF, Yoshida S, et al. ((2000)) Flat and depressed colonic neoplasms: a prospective study of 1000 colonoscopies in the UK. Lancet 355:: 1211--1214.
6. Soetikno RM, Kaltenbach T, Rouse RV, Park W, Maheshwari A, et al. ((2008)) Prevalence of nonpolypoid (flat and depressed) colorectal neoplasms in asymptomatic and symptomatic adults. JAMA 299:: 1027--1035.
7. Wolber RA, Owen DA, ((1991)) Flat adenomas of the colon. Hum Pathol 22:: 70--74.
8. Sillars-Hardebol AH, Carvalho B, van EM, Fijneman RJ, Meijer GA, ((2011)) The adenoma hunt in colorectal cancer screening: defining the target. J Pathol.
9. Hanahan D, Weinberg RA, ((2011)) Hallmarks of cancer: the next generation. Cell 144:: 646--674.
10. Kinzler KW, Vogelstein B, ((1996)) Lessons from hereditary colorectal cancer. Cell 87:: 159--170.
11. Voorham QJ, Carvalho B, Spiertz AJ, van Grieken NC, Mongera S, et al. ((2012)) Chromosome 5q loss in colorectal flat adenomas. Clin Cancer Res. DOI:10.1158/1078-0432.CCR-11-2385.
12. Iwao K, Nakamori S, Kameyama M, Imaoka S, Kinoshita M, et al. ((1998)) Activation of the beta-catenin gene by interstitial deletions involving exon 3 in primary colorectal carcinomas without adenomatous polyposis coli mutations. Cancer Res 58:: 1021--1026.
13. Umetani N, Sasaki S, Masaki T, Watanabe T, Matsuda K, et al. ((2000)) Involvement of APC and K-ras mutation in non-polypoid colorectal tumorigenesis. Br J Cancer 82:: 9--15.
14. Yashiro M, Carethers JM, Laghi L, Saito K, Slezak P, et al. ((2001)) Genetic pathways in the evolution of morphologically distinct colorectal neoplasms. Cancer Res 61:: 2676--2683.
15. Noro A, Sugai T, Habano W, Nakamura S, ((2003)) Analysis of Ki-ras and p53 gene mutations in laterally spreading tumors of the colorectum. Pathol Int 53:: 828--836.
16. Takahashi T, Nosho K, Yamamoto H, Mikami M, Taniguchi H, et al. ((2007)) Flat-type colorectal advanced adenomas (laterally spreading tumors) have different genetic and epigenetic alterations from protruded-type advanced adenomas. Mod Pathol 20:: 139--147.
17. Yoshida S, Ikehara N, Aoyama N, Shirasaka D, Sakashita M, et al. ((2008)) Relationship of BRAF mutation, morphology, and apoptosis in early colorectal cancer. Int J Colorectal Dis 23:: 7--13.
18. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, et al. ((2006)) The consensus coding sequences of human breast and colorectal cancers. Science 314:: 268--274.
19. Jaramillo E, Watanabe M, Slezak P, Rubio C, ((1995)) Flat neoplastic lesions of the colon and rectum detected by high-resolution video endoscopy and chromoscopy. Gastrointest Endosc 42:: 114--122.
20. Urban O, Vitek P, Fojtik P, Kliment M, Janik D, et al. ((2008)) Laterally spreading tumors-experience based on 138 consecutive cases. Hepatogastroenterology 55:: 351--355.
21. Endoscopic Classification Review Group ((2003)) The Paris endoscopic classification of superficial neoplastic lesions: esophagus, stomach, and colon: November 30 to December 1, 2002. Gastrointest Endosc 58:: S3--43.
22. Kudo S, ((1993)) Endoscopic mucosal resection of flat and depressed types of early colorectal cancer. Endoscopy 25:: 455--461.
23. Weiss MM, Hermsen MA, Meijer GA, van Grieken NC, Baak JP, et al. ((1999)) Comparative genomic hybridisation. Mol Pathol 52:: 243--251.
24. Bamford S, Dawson E, Forbes S, Clements J, Pettett R, et al. ((2004)) The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website (update 26 July 2010). Br J Cancer 91:: 355--358.
25. De Roock W, Claes B, Bernasconi D, De Schutter J, Biesmans B, et al. ((2010)) Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. Lancet Oncol 11:: 753--762.
26. Thomas RK, Baker AC, Debiasi RM, Winckler W, Laframboise T, et al. ((2007)) High-throughput oncogene mutation profiling in human cancer. Nat Genet 39:: 347--351.
27. Diosdado B, Buffart TE, Watkins R, Carvalho B, Ylstra B, et al. ((2010)) High-resolution array comparative genomic hybridization in sporadic and celiac disease-related small bowel adenocarcinomas. Clin Cancer Res 16:: 1391--1401.
28. Hermsen M, Postma C, Baak J, Weiss M, Rapallo A, et al. ((2002)) Colorectal adenoma to carcinoma progression follows multiple pathways of chromosomal instability. Gastroenterology 123:: 1109--1119.
29. Mikami M, Nosho K, Yamamoto H, Takahashi T, Maehata T, et al. ((2006)) Mutational analysis of beta-catenin and the RAS-RAF signalling pathway in early flat-type colorectal tumours. Eur J Cancer 42:: 3065--3072.
30. Sakamoto N, Terai T, Ajioka Y, Abe S, Kobayasi O, et al. ((2004)) Frequent hypermethylation of RASSF1A in early flat-type colorectal tumors. Oncogene 23:: 8900--8907.
31. Minamoto T, Sawaguchi K, Mai M, Yamashita N, Sugimura T, et al. ((1994)) Infrequent K-ras activation in superficial-type (flat) colorectal adenomas and adenocarcinomas. Cancer Res 54:: 2841--2844.
32. Sugimoto T, Ohta M, Ikenoue T, Yamada A, Tada M, et al. ((2010)) Macroscopic morphologic subtypes of laterally spreading colorectal tumors showing distinct molecular alterations. Int J Cancer 127:: 1562--1569.
33. Yamagata S, Muto T, Uchida Y, Masaki T, Higuchi Y, et al. ((1995)) Polypoid growth and K-ras codon 12 mutation in colorectal cancer. Cancer 75:: 953--957.
34. Hiraoka S, Kato J, Tatsukawa M, Harada K, Fujita H, et al. ((2006)) Laterally spreading type of colorectal adenoma exhibits a unique methylation phenotype and K-ras mutations. Gastroenterology 131:: 379--389.
35. Oudejans JJ, Slebos RJ, Zoetmulder FA, Mooi WJ, Rodenhuis S, ((1991)) Differential activation of ras genes by point mutation in human colon cancer with metastases to either lung or liver. Int J Cancer 49:: 875--879.
36. Vogelstein B, Fearon ER, Hamilton SR, Kern SE, Preisinger AC, et al. ((1988)) Genetic alterations during colorectal-tumor development. N Engl J Med 319:: 525--532.
37. Fujimori T, Satonaka K, Yamamura-Idei Y, Nagasako K, Maeda S, ((1994)) Non-involvement of ras mutations in flat colorectal adenomas and carcinomas. Int J Cancer 57:: 51--55.
38. Yuen ST, Davies H, Chan TL, Ho JW, Bignell GR, et al. ((2002)) Similarity of the phenotypic patterns associated with BRAF and KRAS mutations in colorectal neoplasia. Cancer Res 62:: 6451--6455.
39. Leggett B, Whitehall V, ((2010)) Role of the serrated pathway in colorectal cancer pathogenesis. Gastroenterology 138:: 2088--2100.
40. Chan TL, Zhao W, Leung SY, Yuen ST, ((2003)) BRAF and KRAS mutations in colorectal hyperplastic polyps and serrated adenomas. Cancer Res 63:: 4878--4881.
41. Young J, Leggett B, Gustafson C, Ward M, Searle J, et al. ((1993)) Genomic instability occurs in colorectal carcinomas but not in adenomas. Hum Mutat 2:: 351--354.
42. Samuels Y, Wang Z, Bardelli A, Silliman N, Ptak J, et al. ((2004)) High frequency of mutations of the PIK3CA gene in human cancers. Science 304:: 554.
43. Velho S, Oliveira C, Ferreira A, Ferreira AC, Suriano G, et al. ((2005)) The prevalence of PIK3CA mutations in gastric and colon cancer. Eur J Cancer 41:: 1649--1654.
44. Rajagopalan H, Jallepalli PV, Rago C, Velculescu VE, Kinzler KW, et al. ((2004)) Inactivation of hCDC4 can cause chromosomal instability. Nature 428:: 77--81.
45. Gylfe AE, Sirkia J, Ahlsten M, Jarvinen H, Mecklin JP, et al. ((2010)) Somatic mutations and germline sequence variants in patients with familial colorectal cancer. Int J Cancer 127:: 2974--2980.
46. Samowitz WS, Powers MD, Spirio LN, Nollet F, van RF, et al. ((1999)) Beta-catenin mutations are more frequent in small colorectal adenomas than in larger adenomas and invasive carcinomas. Cancer Res 59:: 1442--1444.
47. Johnson V, Volikos E, Halford SE, Eftekhar Sadat ET, Popat S, et al. ((2005)) Exon 3 beta-catenin mutations are specifically associated with colorectal carcinomas in hereditary non-polyposis colorectal cancer syndrome. Gut 54:: 264--267.
48. Albuquerque C, Baltazar C, Filipe B, Penha F, Pereira T, et al. ((2010)) Colorectal cancers show distinct mutation spectra in members of the canonical WNT signaling pathway according to their anatomical location and type of genetic instability. Genes Chromosomes Cancer 49:: 746--759.
49. van Wyk R, Slezak P, Kotze MJ, Jaramillo E, Koizumi K, et al. ((1999)) Multiple APC mutations in sporadic flat colorectal adenomas. Eur J Hum Genet 7:: 928--932.
50. Fearnhead NS, Britton MP, Bodmer WF, ((2001)) The ABC of APC. Hum Mol Genet 10:: 721--733.
51. Esteller M, Sparks A, Toyota M, Sanchez-Cespedes M, Capella G, et al. ((2000)) Analysis of adenomatous polyposis coli promoter hypermethylation in human cancer. Cancer Res 60:: 4366--4371.
52. Huang K, Zhang JX, Han L, You YP, Jiang T, et al. ((2010)) MicroRNA roles in beta-catenin pathway. Mol Cancer 9:: 252.
53. Akiyama T, Kawasaki Y, ((2006)) Wnt signalling and the actin cytoskeleton. Oncogene 25:: 7538--7544.
54. Fodde R, Kuipers J, Rosenberg C, Smits R, Kielman M, et al. ((2001)) Mutations in the APC tumour suppressor gene cause chromosomal instability. Nat Cell Biol 3:: 433--438.
55. Tighe A, Johnson VL, Taylor SS, ((2004)) Truncating APC mutations have dominant effects on proliferation, spindle checkpoint control, survival and chromosome stability. J Cell Sci 117:: 6339--6353.
56. Alberici P, Fodde R, ((2006)) The role of the APC tumor suppressor in chromosomal instability. Genome Dyn 1:: 149--170.