Distinctive spatiotemporal stability of somatic mutations in metastasized microsatellite-stable colorectal cancer

American Journal of Surgical Pathology

Volumn 39, Issue 8, 2015, Pages 1140-1147

  Jesinghaus, Moritz ^a   Wolf, Thomas ^a   Pfarr, Nicole ^a   Muckenhuber, Alexander ^a   Ahadova, Aysel ^a,b   Warth, Arne ^a   Goeppert, Benjamin ^a   Sers, Christine ^d   Kloor, Matthias ^a,b   Endris, Volker ^a   Stenzinger, Albrecht ^a   Weichert, Wilko ^a,c  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b Clinical Cooperation Unit Applied Tumor Biology DKFZ   (Germany)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

adenocarcinoma; colon cancer; FFPE; metastasis; next generation sequencing; somatic mutation; tumor evolution

Indexed keywords

MICROSATELLITE DNA; TUMOR MARKER;

ADULT; AGED; BRAIN TUMOR; COLORECTAL TUMOR; DISEASE COURSE; FEMALE; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN; LIVER TUMOR; LUNG TUMOR; LYMPH NODE METASTASIS; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; RETROSPECTIVE STUDY; SECONDARY; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; BRAIN NEOPLASMS; COLORECTAL NEOPLASMS; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LIVER NEOPLASMS; LUNG NEOPLASMS; LYMPHATIC METASTASIS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; PHENOTYPE; RETROSPECTIVE STUDIES; TUMOR MARKERS, BIOLOGICAL;

EID: 84934982047     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0000000000000423     Document Type: Article

References (52)

1. Siegel R, Desantis C, Jemal A. Colorectal cancer statistics, 2014. CA Cancer J Clin. 2014;64:104-117.
2. Budczies J, von Winterfeld M, Klauschen F, et al. The landscape of metastatic progression patterns across major human cancers. Oncotarget. 2015;6:570-583.
3. Brenner H, Kloor M, Pox CP. Colorectal cancer. Lancet. 2014; 383:1490-1502.
4. Fearon ER. Molecular genetics of colorectal cancer. Annu Rev Pathol. 2011;6:479-507.
5. Cho KR, Vogelstein B. Genetic alterations in the adenoma- carcinoma sequence. Cancer. 1992;70:1727-1731.
6. Pino MS, Chung DC. The chromosomal instability pathway in colon cancer. Gastroenterology. 2010;138:2059-2072.
7. Gryfe R, Kim H, Hsieh ET, et al. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer. N Engl J Med. 2000;342:69-77.
8. Briggs S, Tomlinson I. Germline and somatic polymerase epsilon and delta mutations define a new class of hypermutated colorectal and endometrial cancers. J Pathol. 2013;230:148-153.
9. Toyota M, Ahuja N, Ohe-Toyota M, et al. CpG island methylator phenotype in colorectal cancer. Proc Natl Acad Sci USA. 1999; 96:8681-8686.
10. Cancer Genome Atlas N. Comprehensive molecular characterization of human colon and rectal cancer. Nature. 2012;487:330-337.
11. Zhang B, Wang J, Wang X, et al. Proteogenomic characterization of human colon and rectal cancer. Nature. 2014;513:382-387.
12. Nowell PC. The clonal evolution of tumor cell populations. Science. 1976;194:23-28.
13. Gerlinger M, Rowan AJ, Horswell S, et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med. 2012;366:883-892.
14. Shah SP, Morin RD, Khattra J, et al. Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution. Nature. 2009;461:809-813.
15. Wu X, Northcott PA, Dubuc A, et al. Clonal selection drives genetic divergence of metastatic medulloblastoma. Nature. 2012;482: 529-533.
16. Burrell RA, McGranahan N, Bartek J, et al. The causes and consequences of genetic heterogeneity in cancer evolution. Nature. 2013;501:338-345.
17. Swanton C. Intratumor heterogeneity: evolution through space and time. Cancer Res. 2012;72:4875-4882.
18. Crockford A, Jamal-Hanjani M, Hicks J, et al. Implications of intratumour heterogeneity for treatment stratification. J Pathol. 2014;232:264-273.
19. Jones S, Chen WD, Parmigiani G, et al. Comparative lesion sequencing provides insights into tumor evolution. Proc Natl Acad Sci USA. 2008;105:4283-4288.
20. Vakiani E, Janakiraman M, Shen R, et al. Comparative genomic analysis of primary versus metastatic colorectal carcinomas. J Clin Oncol. 2012;30:2956-2962.
21. Brannon A, Vakiani E, Sylvester BE, et al. Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions. Genome Biol. 2014; 15:454-464.
22. Vermaat JS, Nijman IJ, Koudijs MJ, et al. Primary colorectal cancers and their subsequent hepatic metastases are genetically different: implications for selection of patients for targeted treatment. Clin Cancer Res. 2012;18:688-699.
23. Lee SY, Haq F, Kim D, et al. Comparative genomic analysis of primary and synchronous metastatic colorectal cancers. PLoS One. 2014;9:e90459.
24. Xie T, Cho YB, Wang K, et al. Patterns of somatic alterations between matched primary and metastatic colorectal tumors characterized by whole-genome sequencing. Genomics. 2014;104: 234-241.
25. Findeisen P, Kloor M, Merx S, et al. T25 repeat in the 30 untranslated region of the CASP2 gene: a sensitive and specific marker for microsatellite instability in colorectal cancer. Cancer Res. 2005;65:8072-8078.
26. http://cancergenome.nih.gov/. The Cancer Genome Atlas.
27. Forbes SA, Bhamra G, Bamford S, et al. The Catalogue of Somatic Mutations in Cancer (COSMIC). Chapter 10:Unit 10 11. Current protocols in human genetics/editorial board, Jonathan L Haines [et al]. 2008. Chapter 10:Unit 10 11.
28. Stenzinger A, Endris V, Pfarr N, et al. Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm. Oncotarget. 2014;5:6404-6413.
29. Endris V, Penzel R, Warth A, et al. Molecular diagnostic profiling of lung cancer specimens with a semiconductor-based massive parallel sequencing approach: feasibility, costs, and performance compared with conventional sequencing. J Mol Diagn. 2013;15:765-775.
30. Li H. Toward better understanding of artifacts in variant calling from high-coverage samples. Bioinformatics. 2014;30:2843-2851.
31. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754-1760.
32. Li H, Handsaker B, Wysoker A, et al. The Sequence Alignment/ Map format and SAMtools. Bioinformatics. 2009;25:2078-2079.
33. Lassmann T, Hayashizaki Y, Daub CO. SAMStat: monitoring biases in next generation sequencing data. Bioinformatics. 2011;27: 130-131.
34. Rimmer A, Phan H, Mathieson I, et al. Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications. Nat Genet. 2014;46:912-918.
35. Robinson JT, Thorvaldsdottir H, Winckler W, et al. Integrative genomics viewer. Nat Biotechnol. 2011;29:24-26.
36. McLaren W, Pritchard B, Rios D, et al. Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics. 2010;26:2069-2070.
37. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7: 248-249.
38. Sherry ST, Ward MH, Kholodov M, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29:308-311.
39. Van Cutsem E, Borras JM, Castells A, et al. Improving outcomes in colorectal cancer: where do we go from here?. Eur J Cancer. 2013;49:2476-2485.
40. Heinemann V, Douillard JY, Ducreux M, et al. Targeted therapy in metastatic colorectal cancer-an example of personalised medicine in action. Cancer Treat Rev. 2013; 39 592-601.
41. Vogelstein B, Papadopoulos N, Velculescu VE, et al. Cancer genome landscapes. Science. 2013;339:1546-1558.
42. Wagle N, Emery C, Berger MF, et al. Dissecting therapeutic resistance to RAF inhibition in melanoma by tumor genomic profiling. J Clin Oncol. 2011;29:3085-3096.
43. Weichert W, Schewe C, Lehmann A, et al. KRAS genotyping of paraffin-embedded colorectal cancer tissue in routine diagnostics: comparison of methods and impact of histology. J Mol Diagn. 2010; 12:35-42.
44. Karapetis CS, Khambata-Ford S, Jonker DJ, et al. K-ras mutations and benefit from cetuximab in advanced colorectal cancer. N Engl J Med. 2008;359:1757-1765.
45. Amado RG, Wolf M, Peeters M, et al. Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer. J Clin Oncol. 2008;26:1626-1634.
46. Van Cutsem E, Kohne CH, Hitre E, et al. Cetuximab and chemotherapy as initial treatment for metastatic colorectal cancer. N Engl J Med. 2009;360:1408-1417.
47. Van Cutsem E, Nordlinger B, Cervantes A, et al. Advanced colorectal cancer: ESMO Clinical Practice Guidelines for treatment. Ann Oncol. 2010;21(suppl 5):v93-v97.
48. Knijn N, Mekenkamp LJ, Klomp M, et al. KRAS mutation analysis: a comparison between primary tumours and matched liver metastases in 305 colorectal cancer patients. Br J Cancer. 2011;104: 1020-1026.
49. Dienstmann R, Serpico D, Rodon J, et al. Molecular profiling of patients with colorectal cancer and matched targeted therapy in phase I clinical trials. Mol Cancer Ther. 2012;11:2062-2071.
50. Stenzinger A, Pfarr N, Endris V, et al. Mutations in POLE and survival of colorectal cancer patients - link to disease stage and treatment. Cancer Med. 2014;3:1527-1538.
51. Yates LR, Campbell PJ. Evolution of the cancer genome. Nat Rev Genet. 2012;13:795-806.
52. Bedard PL, Hansen AR, Ratain MJ, et al. Tumour heterogeneity in the clinic. Nature. 2013;501:355-364.