Identification of uncommon PIK3CA mutations in lung cancer by using pyrosequencing

Diagnostic Molecular Pathology

Volumn 22, Issue 1, 2013, Pages 22-27

  Schildgen, Verena ^a   Lüsebrink, Jessica ^a   Appel, Jan D ^a   Wübben, Christine ^a   Engel Riedel, Walburga ^b   Ludwig, Corinna ^b   Stoelben, Erich ^a   Schildgen, Oliver ^a   Brockmann, Michael ^a  

^a Kliniken der Stadt Koeln gGmbH   (Germany)

^b Kliniken der Stadt Kö Ln GGmbH   (Germany)

Author keywords

PIK3CA; pyrosequencing; unusual mutation profile

Indexed keywords

PHOSPHATIDYLINOSITOL 3 KINASE;

ADENOCARCINOMA; ADENOSQUAMOUS CARCINOMA; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; LARGE CELL CARCINOMA; LUNG CANCER; LUNG PARENCHYMA; LUNG TUMOR; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PYROSEQUENCING; SQUAMOUS CELL CARCINOMA;

AGED; AGED, 80 AND OVER; FEMALE; HUMANS; LUNG NEOPLASMS; MALE; MIDDLE AGED; MUTATION; PATHOLOGY, MOLECULAR; PHOSPHATIDYLINOSITOL 3-KINASES; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 84873997537     PISSN: 10529551     EISSN: 15334066     Source Type: Journal    
DOI: 10.1097/PDM.0b013e31825f5f93     Document Type: Article

References (28)

1. Minna JD, Schiller JH. Neoplasms of the Lung. In: Wiener C, ed. Harrison's Principles of Internal Medicine 17th ed. New York: McGraw-Hill Professional; 2008:551-562.
2. Pao W, Girard N. New driver mutations in non-small-cell lung cancer. Lancet Oncol. 2011;12:175-180.
3. Lynch TJ, Bell DW, Sordella R, et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med. 2004;350: 2129-2139.
4. Paez JG, Janne PA, Lee JC, et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science. 2004;304:1497-1500.
5. Riely GJ, Marks J, Pao W. KRAS mutations in non-small cell lung cancer. Proc Am Thorac Soc. 2009;6:201-205.
6. Karakas B, Bachman KE, Park BH. Mutation of the PIK3CA oncogene in human cancers. Br J Cancer. 2006;94:455-459.
7. Hay N. The Akt-mTOR tango and its relevance to cancer. Cancer Cell. 2005;8:179-183.
8. Hennessy BT, Smith DL, Ram PT, et al. Exploiting the PI3K/AKT pathway for cancer drug discovery. Nat Rev Drug Discov. 2005;4:988-1004.
9. Samuels Y, Ericson K. Oncogenic PI3K and its role in cancer. Curr Opin Oncol. 2006;18:77-82.
10. Engelman JA. Targeting PI3K signaling in cancer: opportunities, challenges and limitations. Nat Rev Cancer. 2009;9:550-562.
11. Samuels Y, Wang Z, Bardelli A, et al. High frequency of mutations of the PIK3CA gene in human cancers. Science. 2004;304:554.
12. Lee JW, Soung YH, Kim SY, et al. PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. Oncogene. 2005;24:1477-1480.
13. Yamamoto H, Shigematsu H, Nomura M, et al. PIK3CA mutations and copy number gains in human lung cancers. Cancer Res. 2008;68:6913-6921.
14. Rekhtman N, Paik PK, Arcila ME, et al. Clarifying the spectrum of driver oncogene mutations in biomarker-verified squamous carcinoma of lung: lack of EGFR/KRAS and presence of PIK3CA/AKT1 mutations. Clin Cancer Res. 2012;18:1167-1176.
15. Chaft JE, Arcila ME, Paik PK, et al. Coexistence of PIK3CA and other oncogene mutations in lung adenocarcinoma-rationale for comprehensive mutation profiling. Mol Cancer Ther. 2012;11: 485-491.
16. Janku F, Garrido-Laguna I, Petruzelka LB, et al. Novel therapeutic targets in non-small cell lung cancer. J Thorac Oncol. 2011;6: 1601-1612.
17. Fidler MJ, Morrison LE, Basu S, et al. PTEN and PIK3CA gene copy numbers and poor outcomes in non-small cell lung cancer patients with gefitinib therapy. Br J Cancer. 2011;105:1920-1926.
18. Baker CL, Vaughn CP, Samowitz WS. A PIK3CA pyrosequencing based-assay that excludes pseudogene interference. J Mol Diag. 2012;14:56-60.
19. Kawano O, Sasaki H, Endo K, et al. PIK3CA mutation status in Japanese lung cancer patients. Lung Cancer. 2006;54:209-215.
20. Garnis C, Lockwood WW, Vucic E, et al. High resolution analysis of non-small cell lung cancer cell lines by whole genome tiling path array CGH. Int J Cancer. 2006;118:1556-1564.
21. Massion PP, Taflan PM, Shyr Y, et al. Early involvement of the phosphatidylinositol 3-kinase/Akt pathway in lung cancer progression. Am J Respir Crit Care Med. 2004;170:1088-1094.
22. Jang TW, Oak CH, Chang HK, et al. EGFR and KRAS mutations in patients with adenocarcinoma of the lung. Korean J Intern Med. 2009;24:48-54.
23. Lim EH, Zhang SL, Li JL, et al. Using whole genome amplification (WGA) of low-volume biopsies to assess the prognostic role of EGFR, KRAS, p53, and CMET mutations in advanced-stage nonsmall cell lung cancer (NSCLC). J Thorac Oncol. 2009;4:12-21.
24. Monaco SE, Nikiforova MN, Cieply K, et al. A comparison of EGFR and KRAS status in primary lung carcinoma and matched metastases. Hum Pathol. 2010;41:94-102.
25. Kalikaki A, Koutsopoulos A, Trypaki M, et al. Comparison of EGFR and K-RAS gene status between primary tumours and corresponding metastases in NSCLC. Br J Cancer. 2008;99:923-929.
26. Zhu CQ, da Cunha SG, Ding K, et al. Role of KRAS and EGFR as biomarkers of response to erlotinib in National Cancer Institute of Canada Clinical Trials Group Study BR.21. J Clin Oncol. 2008;26:4268-4275.
27. Ollikainen M, Gylling A, Puputti M, et al. Patterns of PIK3CA alterations in familial colorectal and endometrial carcinoma. Int J Cancer. 2007;121:915-920.
28. Tsiatis AC, Norris-Kirby A, Rich RG, et al. Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: diagnostic and clinical implications. J Mol Diagn. 2010;12:425-432.