medigraphic.com
Instituto Nacional de Salud Pública

2019, Número 3

<< Anterior Siguiente >>

salud publica mex 2019; 61 (3)


Perfil mutacional por secuenciación de nueva generación en cáncer de pulmón de células no pequeñas en población mexicana

Hernández-Pedro N, Soca-Chafre G, Alaez-Versón C, Carrillo-Sánchez K, Avilés-Salas A, Vergara E, Arrieta O

Idioma: Ingles.
Referencias bibliográficas: 35
Paginas: 308-317
Archivo PDF: 369.94 Kb.


RESUMEN

Objetivo. La secuenciación dirigida de nueva generación (SNG) permite la detección múltiple de mutaciones. Este estudio evalúa el perfil de mutaciones somáticas por SNG en pacientes mexicanos con cáncer de pulmón de células no pequeñas (CPCNP). Material y métodos. Se aisló ADN de 90 muestras de pacientes con CPCNP y se analizarón 48 genes relacionados con cáncer. Las mutaciones del receptor del factor de crecimiento epidérmico (EGFR) se detectaron por PCR cuantitativa. Resultados. Se detectaron alteraciones en 27 genes. Las mutaciones más frecuentes fueron TP53 (47.8%) y EGFR (36.7%). En el gen EGFR, 14 casos fueron mutaciones Q787 (15.6%), 10 presentaron microdeleciones en el exón 19 (11.1%), y siete en L858R (7.8%). La frecuencia de mutación en EGFR, MET, HNF1A, HER2 y GUSB fue diferente en comparación con población caucásica. Conclusión. NGS modifica el tratamiento del paciente con CPCNP por su sensibilidad y especificidad para detectar mutaciones. La población mexicana presenta un perfil mutacional particular.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Torre LA, Siegel RL, Jemal A. Lung Cancer Statistics. Adv Exp Med Biol. 2016;893:1-19. https://doi.org/10.1007/978-3-319-24223-1_1

  2. Arrieta O, Villarreal-Garza C, Zamora J, Blake-Cerda M, de la Mata MD, Zavala DG, et al. Long-term survival in patients with non-small cell lung cancer and synchronous brain metastasis treated with whole-brain radiotherapy and thoracic chemoradiation. Radiat Oncol. 2011;6(1):166. https:// doi.org/10.1186/1748-717X-6-166

  3. Raez LE, Santos ES, Rolfo C, Lopes G, Barrios C, Cardona A, et al. Challenges in facing the lung cancer epidemic and treating advanced disease in Latin America. Clin Lung Cancer. 2016;18(1):e71-9. https://doi. org/10.1016/J.CLLC.2016.05.003

  4. Arrieta O, Cardona AF, Martín C, Más-López L, Corrales-Rodríguez L, Bramuglia G, et al. Updated frequency of EGFR and KRAS mutations in nonsmall-cell lung cancer in Latin America: The Latin-American consortium for the investigation of lung cancer (CLICaP). J Thorac Oncol. 2015;10(5):838-43. https://doi.org/10.1097/JTO.0000000000000481

  5. Arrieta O, Cardona AF, Federico-Bramuglia G, Gallo A, Campos-Parra AD, Serrano S, et al. Genotyping non-small cell lung cancer (NSCLC) in Latin America. J Thorac Oncol. 2011;6(11):1955-9. https://doi.org/10.1097/ JTO.0B013E31822F655F

  6. Herbst RS, Morgensztern D, Boshoff C. The biology and management of non-small cell lung cancer. Nature. 2018;553(7689):446-54. https://doi. org/10.1038/nature25183

  7. Richer AL, Friel JM, Carson VM, Inge LJ, Whitsett TG. Genomic profiling toward precision medicine in non-small cell lung cancer: getting beyond eGFR. Pharmacogenomics Pers Med. 2015;8:63-7. https://doi.org/10.2147/ PGPM.S52845

  8. Arrieta O, Cardona AF, Corrales L, Campos-Parra AD, Sánchez-Reyes R, Amieva-Rivera E, et al. The impact of common and rare EGFR mutations in response to EGFR tyrosine kinase inhibitors and platinum-based chemotherapy in patients with non-small cell lung cancer. Lung Cancer. 2015;87(2):169-75. https://doi.org/10.1016/j.lungcan.2014.12.009

  9. Barrón F, Cardona AF, Corrales L, Ramirez-Tirado LA, Caballe-Perez E, Sanchez G, et al. Characteristics of progression to tyrosine kinase inhibitors predict overall survival in patients with advanced non-small cell lung cancer harboring an EGFR mutation. J Thorac Dis. 2018;10(4):2166-78. https://doi.org/10.21037/jtd.2018.03.106

  10. Reungwetwattana T, Weroha SJ, Molina JR. Oncogenic pathways, molecularly targeted therapies, and highlighted clinical trials in non–small-cell lung cancer (NSCLC). Clin Lung Cancer. 2012;13(4):252l66. https://doi. org/10.1016/j.cllc.2011.09.004

  11. Tan O, Shrestha R, Cunich M, Schofield DJ. Application of nextgeneration sequencing to improve cancer management: A review of the clinical effectiveness and cost-effectiveness. Clin Genet. 2018;93(3):533-44. https://doi.org/10.1111/cge.13199

  12. Cheng ML, Oxnard GR. Does TMB impact the effectiveness of TKIs in EGFR-mutant NSCLC? Clin Cancer Res. 2019;25(3):899-900. https://doi. org/10.1158/1078-0432.CCR-18-2368

  13. Soca-Chafre G, Hernández-Pedro N, Aviles-Salas A, Versón CA, Sánchez KC, Cardona AF, et al. Targeted next generation sequencing identified a high frequency genetic mutated profile in wood smoke exposure-related lung adenocarcinoma patients. Oncotarget. 2018;9(55):30499-512. https:// doi.org/10.18632/oncotarget.25369

  14. Arrieta O, Ramírez-Tirado LA, Báez-Saldaña R, Peña-Curiel O, Soca- Chafre G, Macedo-Perez EO. Different mutation profiles and clinical characteristics among Hispanic patients with non-small cell lung cancer could explain the “Hispanic paradox.” Lung Cancer. 2015;90(2):161-6. https://doi. org/10.1016/j.lungcan.2015.08.010

  15. Cardona AF, Zatarain-Barrón ZL, Rojas L, Arrieta O. The reality of complexity: concomitant genomic alterations in patients with EGFR mutations. J Thorac Dis. 2018;10(2):597-9. https://doi.org/10.21037/ jtd.2017.12.136

  16. Detterbeck FC, Boffa DJ, Kim AW, Tanoue LT. The Eighth Edition Lung Cancer Stage Classification. Chest. 2017;151(1):193-203. https://doi. org/10.1016/j.chest.2016.10.010

  17. Cerami E, Gao J, Dogrusoz U, Gross BE, Sumer SO, Aksoy BA, et al. The cBio cancer genomics portal: An pen platform for exploring multidimensional cancer genomics data. Cancer Discov. 2012;2(5):401-4. https:// doi.org/10.1158/2159-8290.CD-12-0095

  18. Gao J, Aksoy BA, Dogrusoz U, Dresdner G, Gross B, Sumer SO, et al. Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. Sci Signal. 2013;6(269):1-34. https://doi.org/10.1126/ scisignal.2004088

  19. Watson IR, Takahashi K, Futreal PA, Chin L. Emerging patterns of somatic mutations in cancer. Nat Rev Genet. 2013;14(10):703-18. https:// doi.org/10.1038/nrg3539

  20. Raez LE, Cardona AF, Santos ES, Catoe H, Rolfo C, Lopes G, et al. The burden of lung cancer in Latin-America and challenges in the access to genomic profiling, immunotherapy and targeted treatments. Lung Cancer. 2018;119:7-13. https://doi.org/10.1016/J.LUNGCAN.2018.02.014

  21. Tafe LJ, Pierce KJ, Peterson JD, De Abreu F, Memoli VA, Black CC, et al. Clinical genotyping of non–small cell lung cancers using targeted next-generation sequencing: utility of identifying rare and co-mutations in oncogenic driver genes 1. Neoplasia. 2016;18(9):577-83. https://doi. org/10.1016/j.neo.2016.07.010

  22. Cancer Genome Atlas Research Network. Comprehensive molecular profiling of lung adenocarcinoma. Nature. 2014;511(7511):543-50. https:// doi.org/10.1038/nature13385

  23. Halvorsen AR, Silwal-Pandit L, Meza-Zepeda LA, Vodak D, Vu P, Sagerup C, et al. TP53 mutation spectrum in smokers and never smoking lung cancer patients. Front Genet. 2016;7:85. https://doi.org/10.3389/ fgene.2016.00085

  24. Dearden S, Stevens J, Wu YL, Blowers D. Mutation incidence and coincidence in non small-cell lung cancer: meta-analyses by ethnicity and histology (mutMap). Ann Oncol. 2013;24(9):2371-6. https://doi.org/10.1093/ annonc/mdt205

  25. Skoulidis F, Byers LA, Diao L, Papadimitrakopoulou VA, Tong P, Izzo J, et al. Co-occurring genomic alterations define major subsets of KRASmutant lung adenocarcinoma with distinct biology, immune profiles, and therapeutic vulnerabilities. Cancer Discov. 2015;5(8):861-78. https://doi. org/10.1158/2159-8290.CD-14-1236

  26. Aisner DL, Sholl LM, Berry L, Rossi M, Chen H, Fujimoto J, et al. The impact of smoking and TP53 mutations in lung adenocarcinoma patients with targetable mutations - the Lung Cancer Mutation Consortium (LCMC2). Clin Cancer Res. 2018;24(5):1038-47. https://doi.org/10.1158/1078-0432. CCR-17-2289

  27. Arrieta O, Cruz-Rico G, Soto-Perez-de Celis E, Ramírez-Tirado LA, Caballe-Perez E, Martínez-Hernández JN, et al. Reduction in hepatocyte growth factor serum levels is associated with improved prognosis in advanced lung adenocarcinoma patients treated with Afatinib: a Phase II trial. Target Oncol. 2016;11(5):619-29. https://doi.org/10.1007/s11523-016- 0425-x

  28. Levy M, Lyon L, Barbero E, Wong J, Suga M, Sam D, et al. Histologic grade is predictive of incidence of epidermal growth factor receptor mutations in metastatic lung adenocarcinoma. Med Sci. 2017;5(4):1-12. https://doi.org/10.3390/medsci5040034

  29. Gkolfinopoulos S, Mountzios G. Beyond EGFR and ALK: targeting rare mutations in advanced non-small cell lung cancer. Ann Transl Med. 2018;6(8):142. https://doi.org/10.21037/atm.2018.04.28

  30. Peters S, Zimmermann S. Targeted therapy in NSCLC driven by HER2 insertions. Transl Lung Cancer Res. 2014;3(2):84-8. https://doi. org/10.3978/j.issn.2218-6751.2014.02.06

  31. Garrido-Castro AC, Felip E. HER2 driven non-small cell lung cancer (NSCLC): potential therapeutic approaches. Transl Lung Cancer Res. 2013;2(2):122-7. https://doi.org/10.3978/j.issn.2218-6751.2013.02.02

  32. Sullivan I, Planchard D. Next-Generation EGFR tyrosine kinase inhibitors for treating EGFR-mutant lung cancer beyond first line. Front Med. 2017;3:76. https://doi.org/10.3389/fmed.2016.00076

  33. De Nicola F, Goeman F, Pallocca M, Sperati F, Pizzuti L, Melucci E, et al. Deep sequencing and pathway-focused analysis revealed multigene oncodriver signatures predicting survival outcomes in advanced colorectal cancer. Oncogenesis. 2018;7(7):1-10. https://doi.org/10.1038/s41389-018- 0066-2

  34. Rieth J, Subramanian S. Mechanisms of intrinsic tumor resistance to immunotherapy. Int J Mol Sci. 2018;19(5):1-13. https://doi.org/10.3390/ ijms19051340

  35. Barrón F, Zatarain-Barrón ZL, Cardona AF, Arrieta O. Extending the curve: survival of EGFR-mutated lung cancer patients in the 21st century. J Thorac Dis. 2018;10(3):1265-8. https://doi.org/10.21037/jtd.2018.03.28




2020     |     www.medigraphic.com