Abstract
Lung cancer remains the leading cause of cancer related mortality in the United States, with 142,670 deaths anticipated in 2019 [1]. Lung cancer incidence continues to decline with 228,150 estimated new cases in 2019. The decline of case in males is twice the number compared to females, which may be related to tobacco consumption and smoking cessation patterns [2]. Mortality rates from lung cancer remain substantial despite significant advances in the field of cancer treatment in recent years. Historically, chemotherapy has been the cornerstone of treatment for NSCLC, with treatment decisions based empirically on tumor histology. The World Health Organization (WHO) identifies two classifications of lung cancer, small cell lung cancer (SCLC) and non-small cell lung cancer (NSCLC) [3–5]. SCLC accounts for approximately 10–15% of all lung cancers and is often directly related to tobacco smoking [1]. NSCLC accounts for approximately 85% of lung cancer cases with associated histologies that include adenocarcinoma, squamous cell, and large cell carcinoma [4]. Adenocarcinoma makes up over 50% of NSCLC [6]. In 2015, the World Health Organization (WHO) updated their lung cancer classifications based upon molecular profiles and genetic alterations. It is recommended that pathologists categorize lung cancer into adenocarcinoma and squamous cell carcinoma secondary to targetable driver genetic alterations. Adenocarcinoma markers include TTF-1 and Napsin 1. Squamous cell carcinoma markers include p40, CK5/6, and p63. Adenocarcinoma is classified by the extent of invasiveness. There are also variants of invasive carcinoma including invasive mucinous adenocarcinoma (IMA), which replaced mucinous bronchi alveolar carcinoma (BAC). Squamous cell carcinomas are classified into keratinizing, non-keratinizing, and basaloid [3–5].
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References
American Cancer Society. Facts & figures 2019. Atlanta: American Cancer Society; 2019.
Siegel RL, Miller KD, Jemal A. Cancer statistics, 2019. CA Cancer J Clin. 2019;69(1):7–34. https://doi.org/10.3322/caac.21551.
Kiel P, Cheng L, Livers-Ertel A, Durm G. The emerging role of molecular testing in non-small cell lung cancer. J Adv Pract Oncol. 2017;8:7–27. https://doi.org/10.6004/jadpro.2017.8.6.13.
Travis WD, Brambilla E, Nicholson AG, Yatabe Y, Austin JH, Beasley MB, Chirieac LR, Dacic S, Duhig E, Flieder DB, Gesisinger K, Hirsch FR, Ishikawa Y, Kerr KM, Noguchi M, Pelosi G, Powell CA, Tsao MS, Wistuba I. The 2015 World Health Organization classification of lung tumors: impact of genetic, clinical and radiologic advances since the 2004 classification. J Thorac Oncol. 2015;10(9):1243–60. https://doi.org/10.1097/JTO.0000000000000630.
Inamura K. Lung cancer: understanding its molecular pathology and the 2015 WHO classification. Front Oncol. 2017;7:1–7. https://doi.org/10.3389/fonc.2017.00193.
DiBardino DM, Rawson DW, Saqi A, Heymann JJ, Pagan CA, Bulman WA. Next-generation sequencing of non-small cell lung cancer using a customized, targeted sequencing panel: emphasis on small biopsy and cytology. Cytojournal. 2017;14:7. https://doi.org/10.4103/1742-6413.202602.
Waxman E, Fossella F. Biomarkers/molecular targets, immunotherapy, and treatments for non-small cell lung cancer. J Adv Pract Oncol. 2016;7:514–24. https://doi.org/10.6004/jadpro.206.754.
Vijayalakshmi R, Krishnamurthy A. Targetable “driver” mutations in non-small cell lung cancer. Indian J Surg Oncol. 2011;2(3):178–88. https://doi.org/10.1007/s13193-011-0108-0.
Lovly C, Horn L, & Pao W. Molecular profiling of lung cancer. My Cancer Genome. 2018. https://www.mycancergenome.org/content/disease/lung-cancer. Updated 16 Mar 2018.
Padda S, Harvey D. Navigating the landscape of molecular testing and targeted treatment of non-small cell lung cancer. J Adv Pract Oncol. 2016;7(3):299–301. https://doi.org/10.6004/jadpro.2067310.
Zhu QG, Zhang SM, Ding XX, He B, Zhang HQ. Driver genes in non-small cell lung cancer: characteristics, detection methods, and targeted therapies. Oncotarget. 2017;8(34):57680–92. https://doi.org/10.18632/oncotarget.17016.
National Comprehensive Cancer Network. Non-small cell lung cancer (Version 3.2019). 2019. https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf. Accessed 5 Feb 2019.
Davies M, Shih H. Diagnosis of lung cancer. J Adv Pract Oncol. 2017;8(Suppl 1):11–23.
Tsao MS, Wistuba IL, Yatabe Y. EGFR testing. In: Mok TS, Carbone DP, Hirsch FR, editors. International Association for the Study of Lung Cancer (IASLC) atlas of EGFR testing in lung cancer. North Fort Myers: Editorial Rx Press; 2017. p. 19–26.
Stewart EL, Tao SZ, Liu G, Tsao MS. Known and putative mechanism of resistance to EGFR targeted therapies in NSCLC patients with EGFR mutations—a review. Transl Lung Cancer Rev. 2015;4(1):67–81.
Yang J, Janne PA, Ahn MJ, Horn L. EGFR gene mutations. In: Mok TS, Carbone DP, Hirsch FR, editors. International Association for the Study of Lung Cancer (IASLC) atlas of EGFR testing in lung cancer. North Fort Myers: Editorial Rx Press; 2017. p. 33–41.
Lindeman NI, Cagle PT, Aisner DL, Arcila ME, Beasley MB, Bernicker EH, Colasacco C, Dacic S, Hirsch FR, Kerr K, Kwiatkowski DJ, Ladanyi M, Nowak JA, Sholl L, Temple-Smolkin R, Solomon B, Soutdr LH, Thunnissen E, Tsao MS, Ventura CB, Wynes MW, Yatabe Y. Updated molecular testing guideline for the selection of lung cancer patients for treatment with the targeted tyrosine kinase inhibitors: guideline from the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. J Thorac Oncol. 2017;13(3):323–58. https://doi.org/10.1016/j.jtho.2017.12.001.
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):S24–31. https://doi.org/10.1038/onc.2009.198.
Yu HA, Arcilia ME, Rekhtman N, Sima CS, Zakowski MF, Pao W, Kris MG, Miller VA, Ladanyi M, Riely GJ. 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. 2013;19(8):2240–7.
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Dest, V., Medow, K. (2019). Introduction to Mutation Testing. In: Davies, M., Eaby-Sandy, B. (eds) Targeted Therapies in Lung Cancer: Management Strategies for Nurses and Practitioners. Springer, Cham. https://doi.org/10.1007/978-3-030-16550-5_2
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DOI: https://doi.org/10.1007/978-3-030-16550-5_2
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