Cytology-based gene mutation tests to predict response to anti-epidermal growth factor receptor therapy: A review

Diagnostic Cytopathology

Volumn 39, Issue 9, 2011, Pages 703-710

  Malapelle, Umberto ^a   Bellevicine, Claudio ^a   Zeppa, Pio ^a   Palombini, Lucio ^a   Troncone, Giancarlo ^a,b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

Author keywords

aspiration; cytology; EGFR; KRAS; PCR

Indexed keywords

BEVACIZUMAB; CETUXIMAB; DNA; EPIDERMAL GROWTH FACTOR RECEPTOR; EPIDERMAL GROWTH FACTOR RECEPTOR KINASE INHIBITOR; ERLOTINIB; GEFITINIB; K RAS PROTEIN; PANITUMUMAB;

ASPIRATION BIOPSY; CANCER CHEMOTHERAPY; CODON; COLORECTAL CANCER; CYTOLOGY; CYTOPATHOLOGY; DNA EXTRACTION; DNA PURIFICATION; DRUG RECEPTOR BINDING; ENDOBRONCHIAL ULTRASONOGRAPHY; ENRICHMENT CULTURE; EXON; GENE MUTATION; GENE SEQUENCE; HEMOPTYSIS; HUMAN; IMMUNOHISTOCHEMISTRY; LUNG NON SMALL CELL CANCER; PRIORITY JOURNAL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; REVIEW; TRANSBRONCHIAL ASPIRATION; TRANSTHORACIC ASPIRATION; TREATMENT RESPONSE;

ANTIBODIES, MONOCLONAL; ANTINEOPLASTIC AGENTS; CARCINOMA, NON-SMALL-CELL LUNG; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; GENETIC TESTING; HUMANS; LUNG NEOPLASMS; NEOPLASM METASTASIS; PROTO-ONCOGENE PROTEINS; QUINAZOLINES; RAS PROTEINS; RECEPTOR, EPIDERMAL GROWTH FACTOR;

EID: 80051777072     PISSN: 87551039     EISSN: 10970339     Source Type: Journal    
DOI: 10.1002/dc.21512     Document Type: Review

References (57)

1. Papadopoulos N, Kinzler KW, Vogelstein B,. The role of companion diagnostics in the development and use of mutation-targeted cancer therapies. Nat Biotechnol 2006; 24: 985-995. (Pubitemid 44215393)
2. Clark DP,. Seize the opportunity: Underutilization of fine-needle aspiration biopsy to inform targeted cancer therapy decisions. Cancer Cytopathol 2009; 117: 289-297.
3. Ciardiello F, Tortora G,. EGFR antagonists in cancer treatment. N Engl J Med 2008; 358: 1160-1174.
4. Goldstein NS, Armin M,. Epidermal growth factor receptor immunohistochemical reactivity in patients with American Joint Committee on Cancer Stage IV colon adenocarcinoma: Implications for a standardized scoring system. Cancer 2001; 92: 1331-1346.
5. Gandara DR, Lara PN, Jr, Mack P, Scagliotti G,. Individualizing therapy for non-small-cell lung cancer: A paradigm shift from empiric to integrated decision-making. Clin Lung Cancer 2009; 10: 148-150.
6. Lievre A, Blons H, Laurent-Puig P,. Oncogenic mutations as predictive factors in colorectal cancer. Oncogene 2010; 29: 3033-3043.
7. Moroni M, Veronese S, Benvenuti S, et al. Gene copy number for epidermal growth factor receptor (EGFR) and clinical response to antiEGFR treatment in colorectal cancer: A cohort study. Lancet Oncol 2005; 6: 279-286. (Pubitemid 40590264)
8. De Roock W, Piessevaux H, De Schutter J, et al. KRAS wild-type state predicts survival and is associated to early radiological response in metastatic colorectal cancer treated with cetuximab. Ann Oncol 2008; 19: 508-515. (Pubitemid 351325672)
9. Taron M, Ichinose Y, Rosell R, et al. Activating mutations in the tyrosine kinase domain of the epidermal growth factor receptor are associated with improved survival in gefitinib-treated chemorefractory lung adenocarcinomas. Clin Cancer Res 2005; 11: 5878-5885. (Pubitemid 41170316)
10. Tsao MS, Sakurada A, Cutz JC, et al. Erlotinib in lung cancer-molecular and clinical predictors of outcome. N Engl J Med 2005; 353: 133-144. (Pubitemid 41058345)
11. Rosell R, Ichinose Y, Taron M, et al. Mutations in the tyrosine kinase domain of the EGFR gene associated with gefitinib response in non-small-cell lung cancer. Lung Cancer 2005; 50: 25-33. (Pubitemid 41297466)
12. Cortes-Funes H, Gomez C, Rosell R, et al. Epidermal growth factor receptor activating mutations in Spanish gefitinib-treated non-small-cell lung cancer patients. Ann Oncol 2005; 16: 1081-1086. (Pubitemid 41418309)
13. Rosell R, Perez-Roca L, Sanchez JJ, et al. Customized treatment in non-small-cell lung cancer based on EGFR mutations and BRCA1 mRNA expression. PLoS One 2009; 4: e5133.
14. Mitsudomi T, Kosaka T, Endoh H, et al. Mutations of the epidermal growth factor receptor gene predict prolonged survival after gefitinib treatment in patients with non-small-cell lung cancer with postoperative recurrence. J Clin Oncol 2005; 23: 2513-2520. (Pubitemid 47050841)
15. Hirsch FR,. The role of genetic testing in the prediction of response to EGFR inhibitors in NSCLC. Oncogene 2009; 28 (Suppl 1): S1-S3.
16. Engelman JA, Mukohara T, Zejnullahu K, et al. Allelic dilution obscures detection of a biologically significant resistance mutation in EGFR-amplified lung cancer. J Clin Invest 2006; 116: 2695-2706. (Pubitemid 44511633)
17. Smouse JH, Cibas ES, Janne PA, Joshi VA, Zou KH, Lindeman NI,. EGFR mutations are detected comparably in cytologic and surgical pathology specimens of nonsmall cell lung cancer. Cancer Cytopathol 2009; 117: 67-72.
18. Travis WD, Rekhtman N, Riley GJ, et al. Pathologic diagnosis of advanced lung cancer based on small biopsies and cytology: A paradigm shift. J Thorac Oncol 2010; 5: 411-414.
19. Boldrini L, Gisfredi S, Ursino S, et al. Mutational analysis in cytological specimens of advanced lung adenocarcinoma: A sensitive method for molecular diagnosis. J Thorac Oncol 2007; 2: 1086-1090. (Pubitemid 350307900)
20. 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: 417-431.
21. Savic S, Tapia C, Grilli B, et al. Comprehensive epidermal growth factor receptor gene analysis from cytological specimens of non-small-cell lung cancers. Br J Cancer 2008; 98: 154-160.
22. Molina-Vila MA, Bertran-Alamillo J, Reguart N, et al. A sensitive method for detecting EGFR mutations in non-small cell lung cancer samples with few tumor cells. J Thorac Oncol 2008; 3: 1224-1235.
23. Troncone G, Malapelle U, Cozzolino I, Palombini L,. KRAS mutation analysis on cytological specimens of metastatic colo-rectal cancer. Diagn Cytopathol 2010, DOI: 10.1002/dc.21417 [Epub ahead of print].
24. Jiang SX, Yamashita K, Yamamoto M, et al. EGFR genetic heterogeneity of nonsmall cell lung cancers contributing to acquired gefitinib resistance. Int J Cancer 2008; 123: 2480-2486.
25. Janne PA, Borras AM, Kuang Y, et al. A rapid and sensitive enzymatic method for epidermal growth factor receptor mutation screening. Clin Cancer Res 2006; 12 (3 Pt 1): 751-758. (Pubitemid 43259854)
26. Nomoto K, Tsuta K, Takano T, et al. Detection of EGFR mutations in archived cytologic specimens of non-small cell lung cancer using high-resolution melting analysis. Am J Clin Pathol 2006; 126: 608-615. (Pubitemid 44498512)
27. Smith GD, Chadwick BE, Willmore-Payne C, Bentz JS,. Detection of epidermal growth factor receptor gene mutations in cytology specimens from patients with non-small cell lung cancer utilising high-resolution melting amplicon analysis. J Clin Pathol 2008; 61: 487-493. (Pubitemid 351518232)
28. Cross J,. DxS Ltd. Pharmacogenomics 2008; 9: 463-467. (Pubitemid 351803928)
29. Horiike A, Kimura H, Nishio K, et al. Detection of epidermal growth factor receptor mutation in transbronchial needle aspirates of non-small cell lung cancer. Chest 2007; 131: 1628-1634. (Pubitemid 46981613)
30. 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.
31. Peeters M, Siena S, Van Cutsem E, et al. Association of progression-free survival, overall survival, and patient-reported outcomes by skin toxicity and KRAS status in patients receiving panitumumab monotherapy. Cancer 2009; 115: 1544-1554.
32. Jimeno A, Messersmith WA, Hirsch FR, Franklin WA, Eckhardt SG,. KRAS mutations and susceptibility to cetuximab and panitumumab in colorectal cancer. Cancer J 2009; 15: 110-113.
33. Fearon ER, Vogelstein B,. A genetic model for colorectal tumorigenesis. Cell 1990; 61: 759-767.
34. Yang S, Farraye FA, Mack C, Posnik O, O'Brien MJ,. BRAF and KRAS Mutations in hyperplastic polyps and serrated adenomas of the colorectum: relationship to histology and CpG island methylation status. Am J Surg Pathol 2004; 28: 1452-1459. (Pubitemid 39425511)
35. Loupakis F, Pollina L, Stasi I, et al. PTEN expression and KRAS mutations on primary tumors and metastases in the prediction of benefit from cetuximab plus irinotecan for patients with metastatic colorectal cancer. J Clin Oncol 2009; 27: 2622-2629.
36. Santini D, Loupakis F, Vincenzi B, et al. High concordance of KRAS status between primary colorectal tumors and related metastatic sites: Implications for clinical practice. Oncologist 2008; 13: 1270-1275.
37. Artale S, Sartore-Bianchi A, Veronese SM, et al. Mutations of KRAS and BRAF in primary and matched metastatic sites of colorectal cancer. J Clin Oncol 2008; 26: 4217-4219.
38. Bouchahda M, Karaboue A, Saffroy R, et al. Acquired KRAS mutations during progression of colorectal cancer metastases: Possible implications for therapy and prognosis. Cancer Chemother Pharmacol 2010; 66: 605-609.
39. Cozzolino I, Malapelle U, Carlomagno C, Palombini L, Troncone G,. Metastasis of colon cancer to the thyroid gland: A case diagnosed on fine-needle aspirate by a combined cytological, immunocytochemical, and molecular approach. Diagn Cytopathol 2010, DOI: 10.1002/dc.21346 [Epub ahead of print].
40. Tol J, Dijkstra JR, Vink-Borger ME, et al. High sensitivity of both sequencing and real-time PCR analysis of KRAS mutations in colorectal cancer tissue. J Cell Mol Med 2009, DOI: 10.1111/j.1582-4934.2009.00788 [Epub ahead of print].
41. Angulo B, Garcia-Garcia E, Martinez R, et al. A Commercial real-time PCR Kit provides greater sensitivity than direct sequencing to detect KRAS mutations. A morphology-based approach in colorectal carcinoma. J Mol Diagn 2010; 12: 292-299.
42. Baldus SE, Schaefer KL, Engers R, Hartleb D, Stoecklein NH, Gabbert HE,. Prevalence and heterogeneity of KRAS, BRAF, and PIK3CA mutations in primary colorectal adenocarcinomas and their corresponding metastases. Clin Cancer Res 2010; 16: 790-799.
43. Franklin WA, Haney J, Sugita M, Bemis L, Jimeno A, Messersmith WA,. KRAS mutation: comparison of testing methods and tissue sampling techniques in colon cancer. J Mol Diagn 2010; 12: 43-50.
44. Kobunai T, Watanabe T, Yamamoto Y, Eshima K,. The frequency of KRAS mutation detection in human colon carcinoma is influenced by the sensitivity of assay methodology: a comparison between direct sequencing and real-time PCR. Biochem Biophys Res Commun 2010; 395: 158-162.
45. Kotoula V, Charalambous E, Biesmans B, et al. Targeted KRAS mutation assessment on patient tumor histologic material in real time diagnostics. PLoS One 2009; 4: e7746.
46. Marchetti A, Gasparini G,. K-ras mutations and cetuximab in colorectal cancer. N Engl J Med 2009; 360: 833-834; author reply 835-836.
47. 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.
48. Whitehall V, Tran K, Umapathy A, et al. A multicenter blinded study to evaluate KRAS mutation testing methodologies in the clinical setting. J Mol Diagn 2009; 11: 543-552.
49. Fassina A, Gazziero A, Zardo D, Corradin M, Aldighieri E, Rossi GP,. Detection of EGFR and KRAS mutations on trans-thoracic needle aspiration of lung nodules by high resolution melting analysis. J Clin Pathol 2009; 62: 1096-1102.
50. Yasufuku K, Chiyo M, Koh E, et al. Endobronchial ultrasound guided transbronchial needle aspiration for staging of lung cancer. Lung Cancer 2005; 50: 347-354.
51. Garcia-Olive I, Monso E, Andreo F, et al. Endobronchial ultrasound-guided transbronchial needle aspiration for identifying EGFR mutations. Eur Respir J 2010; 35: 391-395.
52. Gazdar AF,. Activating and resistance mutations of EGFR in non-small-cell lung cancer: role in clinical response to EGFR tyrosine kinase inhibitors. Oncogene 2009; 28 (Suppl 1): S24-S31.
53. Bean J, Riely GJ, Balak M, et al. Acquired resistance to epidermal growth factor receptor kinase inhibitors associated with a novel T854A mutation in a patient with EGFR-mutant lung adenocarcinoma. Clin Cancer Res 2008; 14: 7519-7525.
54. Kerr KM,. Pathologist and molecular biologist, ever the twain shall meet?. Lung Cancer 2009; 63: 161-163.
55. Khayyata S, Yun S, Pasha T, et al. Value of P63 and CK5/6 in distinguishing squamous cell carcinoma from adenocarcinoma in lung fine-needle aspiration specimens. Diagn Cytopathol 2009; 37: 178-183.
56. Nicholson AG, Gonzalez D, Shah P, et al. Refining the diagnosis and EGFR status of non-small cell lung carcinoma in biopsy and cytologic material, using a panel of mucin staining, TTF-1, cytokeratin 5/6, and P63, and EGFR mutation analysis. J Thorac Oncol 2010; 5: 436-441.
57. Brachtel EF, Iafrate AJ, Mark EJ, Deshpande V,. Cytomorphological correlates of epidermal growth factor receptor mutations in lung carcinoma. Diagn Cytopathol 2007; 35: 257-262. (Pubitemid 46652557)