Molecular Testing of Lung Cancers
2
조회
0
다운로드
5
인용
0
참고문헌
키워드
초록
Targeted therapies guided by molecular diagnostics have become a standard treatment of lung cancer. Epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) rearrangements are currently used as the best predictive biomarkers for EGFR tyrosine kinase inhibitors and ALK inhibitors, respectively. Besides EGFR and ALK, the list of druggable genetic alterations has been growing, including ROS1 rearrangements, RET rearrangements, and MET alterations. In this situation, pathologists should carefully manage clinical samples for molecular testing and should do their best to quickly and accurately identify patients who will benefit from precision therapeutics. Here, we grouped molecular biomarkers of lung cancers into three categories—mutations, gene rearrangements, and amplifications—and propose expanded guidelines on molecular testing of lung cancers.
Abstract
Targeted therapies guided by molecular diagnostics have become a standard treatment of lung cancer. Epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) rearrangements are currently used as the best predictive biomarkers for EGFR tyrosine kinase inhibitors and ALK inhibitors, respectively. Besides EGFR and ALK, the list of druggable genetic alterations has been growing, including ROS1 rearrangements, RET rearrangements, and MET alterations. In this situation, pathologists should carefully manage clinical samples for molecular testing and should do their best to quickly and accurately identify patients who will benefit from precision therapeutics. Here, we grouped molecular biomarkers of lung cancers into three categories—mutations, gene rearrangements, and amplifications—and propose expanded guidelines on molecular testing of lung cancers.
참고문헌 (91)
- Li T, "Genotyping and genomic profiling of non-small-cell lung cancer : implications for current and future therapies", J Clin Oncol, 31, pp.1039~1049 (2013)
- 심효섭, "Guideline Recommendations for EGFR Mutation Testing in Lung Cancer: Proposal of the Korean Cardiopulmonary Pathology Study Group", Journal of Pathology and Translational Medicine, 47(2), pp.100~106 (2013), 대한병리학회[DOI]
- 김효진, "Guideline Recommendations for Testing of ALK Gene Rearrangement in Lung Cancer: A Proposal of the Korean Cardiopulmonary Pathology Study Group", Journal of Pathology and Translational Medicine, 48(1), pp.1~9 (2014), 대한병리학회[DOI]
- Cancer Genome Atlas Research Network, "Comprehensive genomic characterization of squamous cell lung cancers", Nature, 489, pp.519~525 (2012)
- Cancer Genome Atlas Research Network, "Comprehensive molecular profiling of lung adenocarcinoma", Nature, 511, pp.543~550 (2014)
- George J, "Comprehensive genomic profiles of small cell lung cancer", Nature, 524, pp.47~53 (2015)
- Mok TS, "Gefitinib or carboplatin-paclitaxel in pulmonary adenocarcinoma", N Engl J Med, 361, pp.947~957 (2009)
- Maemondo M, "Gefitinib or chemotherapy for non-small-cell lung cancer with mutated EGFR", N Engl J Med, 362, pp.2380~2388 (2010)
- Yatabe Y, "EGFR mutation testing practices within the Asia Pacific region : results of a multicenter diagnostic survey", J Thorac Oncol, 10, pp.438~445 (2015)
- 이상화, "Analysis of Mutations in Epidermal Growth Factor Receptor Gene in Korean Patients with Non-small Cell Lung Cancer: Summary of a Nationwide Survey", Journal of Pathology and Translational Medicine, 49(6), pp.481~488 (2015), 대한병리학회[DOI]
- Lee B, "Clinicopathologic characteristics of EGFR, KRAS, and ALK alterations in 6,595 lung cancers", Oncotarget, 7, pp.23874~23884 (2016)
- Sequist LV, "Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors", Sci Transl Med, 3, pp.75~26 (2011)
- Yu HA, "Analysis of tumor specimens at the time of acquired resistance to EGFR-TKI therapy in 155 patients with EGFR-mutant lung cancers", Clin Cancer Res, 19, pp.2240~2247 (2013)
- Camidge DR, "Acquired resistance to TKIs in solid tumours : learning from lung cancer", Nat Rev Clin Oncol, 11, pp.473~481 (2014)
- Arcila ME, "Rebiopsy of lung cancer patients with acquired resistance to EGFR inhibitors and enhanced detection of the T790M mutation using a locked nucleic acid-based assay", Clin Cancer Res, 17, pp.1169~1180 (2011)
- Jänne PA, "AZD9291 in EGFR inhibitor-resistant non-small-cell lung cancer", N Engl J Med, 372, pp.1689~1699 (2015)
- Thress KS, "Acquired EGFR C797S mutation mediates resistance to AZD9291 in non-small cell lung cancer harboring EGFR T790M", Nat Med, 21, pp.560~562 (2015)
- Planchard D, "EGFR-independent mechanisms of acquired resistance to AZD9291 in EGFR T790M-positive NSCLC patients", Ann Oncol, 26, pp.2073~2078 (2015)
- 이보람, "KRAS Mutation Detection in Non-small Cell Lung Cancer Using a Peptide Nucleic Acid-Mediated Polymerase Chain Reaction Clamping Method and Comparative Validation with Next-Generation Sequencing", Journal of Pathology and Translational Medicine, 48(2), pp.100~107 (2014), 대한병리학회[DOI]
- 김혜련, "The Impact of Cigarette Smoking on the Frequency of and Qualitative Differences in KRAS Mutations in Korean Patients with Lung Adenocarcinoma", Yonsei Medical Journal, 54(4), pp.865~874 (2013), 연세대학교의과대학[DOI]
- Wood K, "Prognostic and predictive value in KRAS in non-small-cell lung cancer: a review", JAMA Oncol, 2, pp.805~812 (2016)
- Shim HS, "Unique genetic and survival characteristics of invasive mucinous adenocarcinoma of the lung", J Thorac Oncol, 10, pp.1156~1162 (2015)
- Marchetti A, "Clinical features and outcome of patients with non-small-cell lung cancer harboring BRAF mutations", J Clin Oncol, 29, pp.3574~3579 (2011)
- Paik PK, "Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations", J Clin Oncol, 29, pp.2046~2051 (2011)
- Ha SY, "Lung cancer in never-smoker Asian females is driven by oncogenic mutations, most often involving EGFR", Oncotarget, 6, pp.5465~5474 (2015)
- Planchard D, "Dabrafenib plus trametinib in patients with previously treated BRAF(V600E)-mutant metastatic non-small cell lung cancer: an open-label, multicentre phase 2 trial", Lancet Oncol, 17, pp.984~993 (2016)
- Planchard D, "Dabrafenib in patients with BRAF(V600E)-positive advanced non-small-cell lung cancer: a single-arm, multicentre, open-label, phase 2 trial", Lancet Oncol, 17, pp.642~650 (2016)
- Hyman DM, "Vemurafenib in multiple nonmelanoma cancers with BRAF V600 mutations", N Engl J Med, 373, pp.726~736 (2015)
- Mazieres J, "Lung cancer that harbors an HER2 mutation : epidemiologic characteristics and therapeutic perspectives", J Clin Oncol, 31, pp.1997~2003 (2013)
- Paik PK, "Response to MET inhibitors in patients with stage IV lung adenocarcinomas harboring MET mutations causing exon 14 skipping", Cancer Discov, 5, pp.842~849 (2015)
- Awad MM, "MET exon 14 mutations in non-small-cell lung cancer are associated with advanced age and stage-dependent MET genomic amplification and c-Met overexpression", J Clin Oncol, 34, pp.721~730 (2016)
- D’Angelo SP, "Incidence of EGFR exon 19 deletions and L858R in tumor specimens from men and cigarette smokers with lung adenocarcinomas", J Clin Oncol, 29, pp.2066~2070 (2011)
- Sun PL, "High incidence of EGFR mutations in Korean men smokers with no intratumoral heterogeneity of lung adenocarcinomas: correlation with histologic subtypes, EGFR", TTF-1 expressions, and clinical features, 2012, pp.7, 323~330
- Pirker R, "Consensus for EGFR mutation testing in non-small cell lung cancer: results from a European workshop", J Thorac Oncol, 5, pp.1706~1713 (2010)
- Travis WD, "International Association for the Study of Lung Cancer", American Thoracic Society, J Thorac Oncol, pp.2011, 6[DOI]
- Lindeman NI, "Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology", J Thorac Oncol, 8, pp.823~859 (2013)
- Noh S, "Optimal combination of immunohistochemical markers for subclassification of non-small cell lung carcinomas: a tissue microarray study of poorly differentiated areas", Lung Cancer, 76, pp.51~55 (2012)
- Pao W, "Epidermal growth factor receptor mutation testing in lung cancer: searching for the ideal method", Clin Cancer Res, 13, pp.4954~4955 (2007)
- 이현주, "Comparison of Direct Sequencing, PNA Clamping-Real Time Polymerase Chain Reaction, and Pyrosequencing Methods for the Detection of EGFR Mutations in Non-small Cell Lung Carcinoma and the Correlation with Clinical Responses to EGFR Tyrosine Kinase Inhibitor Treatment", Journal of Pathology and Translational Medicine, 47(1), pp.52~60 (2013), 대한병리학회
- Kim HJ, "Detection and comparison of peptide nucleic acid-mediated real-time polymerase chain reaction clamping and direct gene sequencing for epidermal growth factor receptor mutations in patients with non-small cell lung cancer", Lung Cancer, 75, pp.321~325 (2012)
- Han HS, "Detection of EGFR mutation status in lung adenocarcinoma specimens with different proportions of tumor cells using two methods of differential sensitivity", J Thorac Oncol, 7, pp.355~364 (2012)
- Frampton GM, "Activation of MET via diverse exon 14 splicing alterations occurs in multiple tumor types and confers clinical sensitivity to MET inhibitors", Cancer Discov, 5, pp.850~859 (2015)
- Frampton GM, "Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing", Nat Biotechnol, 31, pp.1023~1031 (2013)
- Zheng Z, "Anchored multiplex PCR for targeted next-generation sequencing", Nat Med, 20, pp.1479~1484 (2014)
- Rekhtman N, "Suitability of thoracic cytology for new therapeutic paradigms in non-small cell lung carcinoma : high accuracy of tumor subtyping and feasibility of EGFR and KRAS molecular testing", J Thorac Oncol, 6, pp.451~458 (2011)
- Navani N, "Suitability of endobronchial ultrasound-guided transbronchial needle aspiration specimens for subtyping and genotyping of non-small cell lung cancer : a multicenter study of 774 patients", Am J Respir Crit Care Med, 185, pp.1316~1322 (2012)
- Sun PL, "High concordance of EGFR mutation status between histologic and corresponding cytologic specimens of lung adenocarcinomas", Cancer Cytopathol, 121, pp.311~319 (2013)
- Yatabe Y, "Heterogeneous distribution of EGFR mutations is extremely rare in lung adenocarcinoma", J Clin Oncol, 29, pp.2972~2977 (2011)
- Chung JH, "Epidermal growth factor receptor mutation and pathologic-radiologic correlation between multiple lung nodules with ground-glass opacity differentiates multicentric origin from intrapulmonary spread", J Thorac Oncol, 4, pp.1490~1495 (2009)
- Eberhard DA, "Biomarkers of response to epidermal growth factor receptor inhibitors in Non-Small-Cell Lung Cancer Working Group: standardization for use in the clinical trial setting", J Clin Oncol, 26, pp.983~994 (2008)
- Nicholson AG, "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, 2010, pp.5, 436~441
- Sacher AG, "Prospective validation of rapid plasma genotyping for the detection of EGFR and KRAS mutations in advanced lung cancer", JAMA Oncol, 2, pp.1014~1022 (2016)
- Oxnard GR, "Association between plasma genotyping and outcomes of treatment with osimertinib(AZD9291)in advanced non-small-cell lung cancer", J Clin Oncol, 34, pp.3375~3382 (2016)
- Shaw AT, "Tyrosine kinase gene rearrangements in epithelial malignancies", Nat Rev Cancer, 13, pp.772~787 (2013)
- Stransky N, "The landscape of kinase fusions in cancer", Nat Commun, 5, pp.4846~ (2014)
- Solomon BJ, "First-line crizotinib versus chemotherapy in ALK-positive lung cancer", N Engl J Med, 371, pp.2167~2177 (2014)
- Shaw AT, "Crizotinib in ROS1-rearranged non-small-cell lung cancer", N Engl J Med, 371, pp.1963~1971 (2014)
- Kohno T, "KIF5B-RET fusions in lung adenocarcinoma", Nat Med, 18, pp.375~377 (2012)
- Wang R, "RET fusions define a unique molecular and clinicopathologic subtype of non-small-cell lung cancer", J Clin Oncol, 30, pp.4352~4359 (2012)
- Drilon A, "Response to cabozantinib in patients with RET fusion-positive lung adenocarcinomas", Cancer Discov, 3, pp.630~635 (2013)
- Yoh K, "Vandetanib in patients with previously treated RET-rearranged advanced non-small-cell lung cancer (LURET): an open-label, multicentre phase 2 trial", Lancet Respir Med, 5, pp.42~50 (2017)
- Vaishnavi A, "Oncogenic and drug-sensitive NTRK1 rearrangements in lung cancer", Nat Med, 19, pp.1469~1472 (2013)
- Wang R, "FGFR1", 3 tyrosine kinase fusions define a unique molecular subtype of non-small cell lung cancer, 2014, pp.20, 4107~4114
- Nakaoku T, "Druggable oncogene fusions in invasive mucinous lung adenocarcinoma", Clin Cancer Res, 20, pp.3087~3093 (2014)
- Wu YM, "Identification of targetable FGFR gene fusions in diverse cancers", Cancer Discov, 3, pp.636~647 (2013)
- Paik JH, "Screening of anaplastic lymphoma kinase rearrangement by immunohistochemistry in non-small cell lung cancer: correlation with fluorescence in situ hybridization", J Thorac Oncol, 6, pp.466~472 (2011)
- Cha YJ, "Screening of ROS1 rearrangements in lung adenocarcinoma by immunohistochemistry and comparison with ALK rearrangements", PLoS One, 9, pp.e103333~ (2014)
- Lee SE, "Comprehensive analysis of RET and ROS1 rearrangement in lung adenocarcinoma", Mod Pathol, 28, pp.468~479 (2015)
- Mino-Kenudson M, "highly sensitive antibody allows for the routine detection of ALK-rearranged lung adenocarcinomas by standard immunohistochemistry", Clin Cancer Res, 16, pp.1561~1571 (2010)
- Conklin CM, "Immunohistochemistry is a reliable screening tool for identification of ALK rearrangement in non-small-cell lung carcinoma and is antibody dependent", J Thorac Oncol, 8, pp.45~51 (2013)
- Soda M, "A prospective PCR-based screening for the EML4-ALK oncogene in non-small cell lung cancer", Clin Cancer Res, 18, pp.5682~5689 (2012)
- Betz BL, "The use of stained cytologic direct smears for ALK gene rearrangement analysis of lung adenocarcinoma", Cancer Cytopathol, 121, pp.489~499 (2013)
- Weiss J, "Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancer", Sci Transl Med, 2, pp.62~93 (2010)
- Kim HR, "Fibroblast growth factor receptor 1 gene amplification is associated with poor survival and cigarette smoking dosage in patients with resected squamous cell lung cancer", J Clin Oncol, 31, pp.731~737 (2013)
- Dutt A, "Inhibitor-sensitive FGFR1 amplification in human non-small cell lung cancer", PLoS One, 6 (2011)
- Lim SH, "Efficacy and safety of dovitinib in pretreated patients with advanced squamous non-small cell lung cancer with FGFR1 amplification: a single-arm, phase 2 study", Cancer, 122, pp.3024~3031 (2016)
- Wynes MW, "FGFR1 mRNA and protein expression, not gene copy number, predict FGFR TKI sensitivity across all lung cancer histologies", Clin Cancer Res, 20, pp.3299~3309 (2014)
- Pearson A, "High-level clonal FGFR amplification and response to FGFR inhibition in a translational clinical trial", Cancer Discov, 6, pp.838~851 (2016)
- Cappuzzo F, "Epidermal growth factor receptor gene and protein and gefitinib sensitivity in non-small-cell lung cancer", J Natl Cancer Inst, 97, pp.643~655 (2005)
- Soh J, "Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI) frequently occur together in tumor cells", PLoS One, 4, pp.e7464~ (2009)
- Lee Y, "High EGFR gene copy number and skin rash as predictive markers for EGFR tyrosine kinase inhibitors in patients with advanced squamous cell lung carcinoma", Clin Cancer Res, 18, pp.1760~1768 (2012)
- Schildhaus HU, "MET amplification status in therapy-naive adeno- and squamous cell carcinomas of the lung", Clin Cancer Res, 21, pp.907~915 (2015)
- Ou SH, "Activity of crizotinib (PF02341066), a dual mesenchymal-epithelial transition (MET) and anaplastic lymphoma kinase (ALK) inhibitor, in a non-small cell lung cancer patient with de novo MET amplification", J Thorac Oncol, 6, pp.942~946 (2011)
- Zhang Y, "Response to crizotinib observed in lung adenocarcinoma with MET copy number gain but without a high-level MET", CEP7 ratio, MET overexpression, orexon 14 splicing mutations, 2016, pp.11, e59~e62
- Mar N, "Targeting HER2 in the treatment of non-small cell lung cancer", Lung Cancer, 87, pp.220~225 (2015)
- Takezawa K, "HER2 amplification: a potential mechanism of acquired resistance to EGFR inhibition in EGFR-mutant lung cancers that lack the second-site EGFRT790M mutation", Cancer Discov, 2, pp.922~933 (2012)
- Schildhaus HU, "Definition of a fluorescence in-situ hybridization score identifies high- and low-level FGFR1 amplification types in squamous cell lung cancer", Mod Pathol, 25, pp.1473~1480 (2012)
- Wolff AC, "Recommendations for human epidermal growth factor receptor 2 testing in breast cancer : American Society of Clinical Oncology", College of American Pathologists clinical practice guideline update, 2013, pp.31, 3997~4013
- Dziadziuszko R, "Correlation between MET gene copy number by silver in situ hybridization and protein expression by immunohistochemistry in non-small cell lung cancer", J Thorac Oncol, 7, pp.340~347 (2012)
- Gadgeel SM, "Fibroblast growth factor receptor 1 amplification in non-small cell lung cancer by quantitative real-time PCR", PLoS One, 8, pp.e79820~ (2013)
- Goke F, "Rationale for treatment of metastatic squamous cell carcinoma of the lung using fibroblast growth factor receptor inhibitors", Chest, 142, pp.1020~1026 (2012)
