2020, Número 1
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Neumol Cir Torax 2020; 79 (1)
Perfil molecular tumoral del cáncer pulmonar medido por secuenciación de nueva generación
Sánchez-Ríos CP, Flores-Soto MR, Rodríguez-Cid JR, Martínez-Barrera LM, Santillán-Doherty P, Alatorre-Alexander JA
Idioma: Español
Referencias bibliográficas: 32
Paginas: 17-25
Archivo PDF: 367.45 Kb.
RESUMEN
Introducción: El cáncer de pulmón es la principal causa de muerte por cáncer en todo el mundo; muestra un aumento en mujeres y no fumadores en la última década. Actualmente se trabaja bajo el enfoque diagnóstico-terapéutico con el conocimiento de la heterogeneidad de los tumores y la optimización en el análisis molecular con técnicas novedosas como la secuenciación genética.
Material y métodos: Se realizó un estudio descriptivo y trasversal. Se incluyó 112 pacientes con cáncer. Se analizaron regiones relevantes en muestras de tejido tumoral para la búsqueda de mutaciones asociadas a cáncer en 15 genes y posteriormente se realizaron análisis descriptivo univariado.
Resultados: Se observó una mayor frecuencia de mutaciones en TP53 (64.3%), seguido de 32 pacientes (28.6%) con mutación en receptor del factor de crecimiento epidérmico y 29 pacientes (25.9%) con mutación en ERBB2. Seguidas en orden de frecuencia KRAS, PIK3CA, KIT, BRAF y NRAS. No se encontraron mutaciones en AKT y MET.
Conclusiones: Corroboramos por secuenciación de nueva generación la frecuencia aproximada informe de mutaciones en receptor del factor de crecimiento epidérmico y su asociación con antecedente de no fumar y el género femenino como se ha establecido en la literatura internacional.
REFERENCIAS (EN ESTE ARTÍCULO)
Arrieta O, Guzmán de Alba E, Alba López LF, et al. Consenso Nacional de Diagnóstico y Tratamiento del cáncer de pulmón de células no pequeñas. Rev Invest Clin 2013;65(Supl.1):s5-s84.
Sharma SV, Settleman J. ErbBs in lung cancer. Exp Cell Res 2009;315(4):557-571. doi: 10.1016/j.yexcr.2008.07.026.
Langer CJ, Besse B, Gualberto A, Brambilla E, Soria JC. The evolving role of histology in the management of advanced non-small-cell lung cancer. J Clin Oncol 2010;28(36):5311-5320. doi: 10.1200/JCO.2010.28.8126.
Kwak EL, Bang YJ, Camidge DR, et al. Anaplastic lymphoma kinase inhibition in non-small-cell lung cancer. N Engl J Med 2010;363(18):1693-1703. doi: 10.1056/NEJMoa1006448.
Schuurbiers OC, Looijen-Salamon MG, Ligtenberg MJ, van der Heijden HF. A brief retrospective report on the feasibility of epidermal growth factor receptor and KRAS mutation analysis in transesophageal ultrasound- and endobronchial ultrasound-guided fine needle cytological aspirates. J Thorac Oncol 2010;5(10):1664-1667. doi: 10.1097/JTO.0b013e3181f0bd93.
Keedy VL, Temin S, Somerfield MR, et al. American Society of Clinical Oncology provisional clinical opinion: Epidermal growth factor receptor (EGFR) Mutation testing for patients with advanced non-small-cell lung cancer considering first-line EGFR tyrosine kinase inhibitor therapy. J Clin Oncol 2011;29(15):2121-2127. doi: 10.1200/JCO.2010.31.8923.
Leighl NB, Rekhtman N, Biermann WA, et al. Molecular testing for selection of patients with lung cancer for epidermal growth factor receptor and anaplastic lymphoma kinase tyrosine kinase inhibitors: American Society of Clinical Oncology endorsement of the College of American Pathologists/International Association for the study of lung cancer/association for molecular pathology guideline. J Clin Oncol 2014;32(32):3673-3679. doi: 10.1200/JCO.2014.57.3055.
Ettinger DS, Wood DE, Akerley W, et al. Non-small cell lung cancer, version 6.2015. J Natl Compr Canc Netw 2015;13(5):515-524. doi: 10.6004/jnccn.2015.0071.
Planchard D, Smit EF, Groen HJM, et al. Dabrafenib plus trametinib in patients with previously untreated BRAFV600E-mutant metastatic non-small-cell lung cancer: an open-label, phase 2 trial. Lancet Oncol 2017;18(10):1307-1316. doi: 10.1016/S1470-2045(17)30679-4.
Lee CK, Brown C, Gralla RJ, et al. Impact of EGFR inhibitor in non-small cell lung cancer on progression-free and overall survival: a meta-analysis. J Natl Cancer Inst 2013;105(9):595-605. doi: 10.1093/jnci/djt072.
Bulman W, Saqi A, Powell CA. Acquisition and processing of endobronchial ultrasound-guided transbronchial needle aspiration specimens in the era of targeted lung cancer chemotherapy. Am J Respir Crit Care Med 2012;185(6):606-611. doi: 10.1164/rccm.201107-1199CI.
Jurado J, Saqi A, Maxfield R, et al. The efficacy of EBUS-guided transbronchial needle aspiration for molecular testing in lung adenocarcinoma. Ann Thorac Surg 2013;96(4):1196-1202. doi: 10.1016/j.athoracsur.2013.05.066.
Sequist LV, Heist RS, Shaw AT, et al. Implementing multiplexed genotyping of non-small-cell lung cancers into routine clinical practice. Ann Oncol 2011;22(12):2616-2624. doi: 10.1093/annonc/mdr489.
Li T, Kung HJ, Mack PC, Gandara DR. Genotyping and genomic profiling of non-small-cell lung cancer: Implications for current and future therapies. J Clin Oncol 2013;31(8):1039-1049. doi: 10.1200/JCO.2012.45.3753.
Amorín KE. Cáncer de pulmón, una revisión sobre el conocimiento actual, métodos diagnósticos y perspectivas terapéuticas. Rev perú med exp salud publica 2013;30(1):85-92.
Dietz S, Sültmann H, Du Y, et al. Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy. Oncotarget 2017;8(43):74049-74057. doi: 10.18632/oncotarget.18200.
NCCN guidelines version 3. 2018 Non-Small Cell Lung Cancer. Access date: 2018 March 14. Available from: https://www.nccn.org/professionals/physician_gls/default.aspx.
Varghese AM, Sima CS, Chaft JE, et al. Lungs don’t forget: Comparison of the KRAS and EGFR mutation profile and survival of collegiate smokers and never smokers with advanced lung cancers. J Thorac Oncol 2013;8(1):123-125. doi: 10.1097/JTO.0b013e31827914ea.
Mazza FD, Cappuzzo F. Treating EGFR mutation resistance in non-small cell lung cancer – role of osimertinib. Appl Clin Genet 2017;10:49-56. doi: 10.2147/TACG.S103471.
Wu YL, Saijo N, Thongprasert S, et al. Efficacy according to blind independent central review: Post-hoc analyses from the phase III, randomized, multicenter, IPASS study of first-line gefitinib versus carboplatin/paclitaxel in Asian patients with EGFR mutation-positive advanced NSCLC. Lung Cancer 2017;104:119-125. doi: 10.1016/j.lungcan.2016.11.022.
Zhang YL, Yuan JQ, Wang KF, et al. The prevalence of EGFR mutation in patients with non-small cell lung cancer: a systematic review and meta-analysis. Oncotarget 2016;7(48):78985-78993. doi: 10.18632/oncotarget.12587.
Martelli MP, Sozzi G, Hernandez L, Pettirossi V, et al. EML4-ALK rearrangement in non-small cell lung cancer and non-tumor lung tissues. Am J Pathol 2009;174(2):661-670. doi: 10.2353/ajpath.2009.080755.
Kim H, Chung JH. Overview of clinicopathologic features of ALK-rearranged lung adenocarcinoma and current diagnostic testing for ALK rearrangement. Transl Lung Cancer Res 2015;4(2):149-155. doi: 10.3978/j.issn.2218-6751.2014.12.02.
Peters S, Camidge DR, Shaw AT, et al. Alectinib versus crizotinib in untreated alk-positive non–small-cell lung cancer. N Engl J Med 2017;377(9):829-838. doi: 10.1056/NEJMoa1704795.
Bubendorf L, Büttner R, Al-Dayel F, et al. Testing for ROS1 in non-small cell lung cancer: a review with recommendations. Virchows Arch 2016;469(5): 489-503. doi: 10.1007/s00428-016-2000-3.
Zhao J, Li Q, Lin G, et al. Mutation profiling and treatment choosing of Chinese ROS1 positive advanced lung cancer patients. J Clin Oncol 2018. Access date: 2018 July 9. Avaible from: https://ascopubs.org/doi/abs/10.1200/JCO.2018.36.15_suppl.e21102.
Planchard D, Smit EF, Groen HJM, et al. Dabrafenib plus trametinib in patients with previously untreated BRAFV600E-mutant metastatic non-small-cell lung cancer: an open-label, phase 2 trial. Lancet Oncol 2017;18(10):1307-1316. doi: 10.1016/S1470-2045(17)30679-4.
Jorge SE, Schulman S, Freed JA, et al. Responses to the multitargeted MET/ALK/ROS1 inhibitor crizotinib and co-occurring mutations in lung adenocarcinomas with MET amplification or MET exon 14 skipping mutation. Lung Cancer 2015;90(3):369-374. doi: 10.1016/j.lungcan.2015.10.028.
Mar N, Vredenburgh JJ, Wasser JS. Targeting HER2 in the treatment of non-small cell lung cancer. Lung Cancer 2015;87(3):220-225. doi: 10.1016/j.lungcan.2014.12.018.
Liu L, Li Y, Li S, et al. Comparison of next-generation sequencing systems. J Biomed Biotechnol 2012;2012:251364. doi: 10.1155/2012/251364.
Tops BB, Normanno N, Kurth H, et al. Development of a semi-conductor sequencing-based panel for genotyping of colon and lung cancer by the Onconetwork consortium. BMC Cancer 2015;15:26. doi: 10.1186/s12885-015-1015-5.
D’Haene N, Le Mercier M, De Nève N, et al. Clinical validation of targeted next generation sequencing for colon and lung cancers. PLoS One 2015;10(9): e0138245. doi: 10.1371/journal.pone.0138245.