Ion Torrent next-generation sequencing for routine identification of clinically relevant mutations in colorectal cancer patients

Journal of Clinical Pathology

Volumn 68, Issue 1, 2015, Pages 64-68

  Malapelle, Umberto ^a   Vigliar, Elena ^a   Sgariglia, Roberta ^a   Bellevicine, Claudio ^a   Colarossi, Lorenzo ^b,c   Vitale, Domenico ^b   Pallante, Pierlorenzo ^a,d   Troncone, Giancarlo ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b Department of Experimental Oncology   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; K RAS PROTEIN; TUMOR MARKER;

ACCURACY; ALLELE; ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HUMAN; ION TORRENT AMPLISEQ; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSTICS; ONCOGENE N RAS; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; COLORECTAL TUMOR; ECONOMICS; GENETICS; HIGH THROUGHPUT SEQUENCING; NUCLEOTIDE SEQUENCE; PROCEDURES;

COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; TUMOR MARKERS, BIOLOGICAL;

EID: 84919363528     PISSN: 00219746     EISSN: 14724146     Source Type: Journal    
DOI: 10.1136/jclinpath-2014-202691     Document Type: Article

References (24)

1. Malapelle U, Carlomagno C, de Luca C, et al. KRAS testing in metastatic colorectal carcinoma: Challenges, controversies, breakthroughs and beyond. J Clin Pathol 2014;67:1-9
2. 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;26:1626-34
3. 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;359:1757-65
4. De Roock W, Jonker DJ, Di Nicolantonio F, et al. Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-refractory metastatic colorectal cancer treated with cetuximab. JAMA 2010;304:1812-20
5. Allegra CJ, Jessup JM, Somerfield MR, et al. American Society of Clinical Oncology provisional clinical opinion: Testing for KRAS gene mutations in patients with metastatic colorectal carcinoma to predict response to anti-epidermal growth factor receptor monoclonal antibody therapy. J Clin Oncol 2009;27:2091-6
6. van Krieken JH, Jung A, Kirchner T, et al. KRAS mutation testing for predicting response to anti-EGFR therapy for colorectal carcinoma: Proposal for an European quality assurance program. Virchows Arch 2008;453:417-31
7. Malapelle U, Bellevicine C, Salatiello M, et al. Sanger sequencing in routine KRAS testing: A review of 1720 cases from a pathologist's perspective. J Clin Pathol 2012;65:940-4
8. Douillard JY, Oliner KS, Siena S, et al. Panitumumab-FOLFOX4 treatment and RAS mutations in colorectal cancer. N Engl J Med 2013;369:1023-34
9. Salto-Tellez M, de Castro DG. Next generation sequencing: A change of paradigm in molecular diagnostic validation. J Pathol 2014;234:5-10
10. Beadling C, Neff TL, Heinrich MC, et al. Combining highly multiplexed PCR with semiconductor-based sequencing for rapid cancer genotyping. J Mol Diagn 2013;15:171-6
11. Sikkema-Raddatz B, Johansson LF, et al. Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum Mutat 2013;34:1035-42
12. Rothberg JM, Hinz W, Rearick TM, et al. An integrated semiconductor device enabling non-optical genome sequencing. Nature 2011;475:348-52
13. Zhang L, Chen L, Sah S, et al. Profiling cancer gene mutations in clinical formalin-fixed, paraffin-embedded colorectal tumor specimens using targeted next-generation sequencing. Oncologist 2014;19:336-43
14. Tsongalis GJ, Peterson JD, de Abreu FB, et al. Routine use of the Ion Torrent AmpliSeq Cancer Hotspot Panel for identification of clinically actionable somatic mutations. Clin Chem Lab Med 2013;52:707-14
15. Hadd AG, Houghton J, Choudhary A, et al. Targeted, high-depth, next-generation sequencing of cancer genes in formalin-fixed, paraffin-embedded and fine-needle aspiration tumor specimens. J Mol Diagn 2013;15:234-47
16. Normanno N, Petraroli R, Rico A, et al. The OncoNetwork Consortium: A European collaborative research study on the development of an Ion AmpliSeq gene panel targeting hot spots in colon and lung cancers. Cancer Research 2013; 73(8, Suppl. 1):36
17. Ciardiello F, Normanno N, Maiello E, et al. Clinical activity of FOLFIRI plus cetuximab according to extended gene mutation status by next generation sequencing: findings from the CAPRI-GOIM trial. Ann Oncol 2014;25:1756-61
18. Troncone G, Cozzolino I, Fedele M, et al. Preparation of thyroid FNA material for routine cytology and BRAF testing: A validation study. Diagn Cytopathol 2010;38:172-6
19. Troncone G, Malapelle U, Cozzolino I, et al. KRAS mutation analysis on cytological specimens of metastatic colo-rectal cancer. Diagn Cytopathol 2010;38:869-73
20. Lin MT, Mosier SL, Thiess M, et al. Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing. Am J Clin Pathol 2014;141:856-66
21. Kothari N, Schell MJ, Teer JK, et al. Comparison of KRAS mutation analysis of colorectal cancer samples by standard testing and next-generation sequencing. J Clin Pathol 2014;67:764-7
22. Janakiraman M, Vakiani E, Zeng Z, et al. Genomic and biological characterization of exon 4 KRAS mutations in human cancer. Cancer Res 2010;70:5901-11
23. Malapelle U, Carlomagno C, Salatiello M, et al. KRAS mutation detection by high-resolution melting analysis significantly predicts clinical benefit of cetuximab in metastatic colorectal cancer. Br J Cancer 2012;107:626-31
24. Pant S, Weiner R, Marton MJ. Navigating the rapids: The development of regulated next-generation sequencing-based clinical trial assays and companion diagnostics. Front Oncol 2014;4:78.