Recomendaciones de la Asociación Argentina de Oncología Clínica de testeo molecular para alteraciones somáticas en cáncer de mama, colon, pulmón no micrócitico y tumores genitourinarios

Autores/as

DOI:

https://doi.org/10.56969/oc.v29i1.168

Palabras clave:

testeo molecular, oncología de precisión, alteraciones somáticas, molecular testing, precision oncology, somatic alterations

Resumen

Los avances en la comprensión de la biología molecular de los tumores han revolucionado el campo de la oncología y los testeos moleculares para identificar alteraciones somáticas se han convertido en una herramienta indispensable para el diagnóstico, pronóstico y tratamiento personalizado de los pacientes con cáncer. La implementación efectiva de estas pruebas es crucial para mejorar los resultados clínicos y optimizar la gestión de los recursos sanitarios pero el acceso a estas tecnologías y la estandarización de los protocolos pueden variar considerablemente planteando desafíos significativos. Los autores de acuerdo al modelo tumoral que con mayor frecuencia tratan en su práctica habitual, utilizaron como referencia las guías internacionales de NCCN, ASCO y ESMO, y los estudios de investigación reportados en la bibliografía de dichas guías para discutir la aplicación de las recomendaciones en el sistema sanitario argentino. La relevancia final otorgada a cada recomendación fue efectuada en base a la prevalencia de cada una de las mutaciones somáticas en la población de referencia, la evidencia disponible respecto a moléculas accionables y su disponibilidad en nuestro país. Se emitieron recomendaciones finales elaboradas tras la aceptación unánime de cada grupo presentes en el presente artículo. Es fundamental que los profesionales de la salud en Argentina reconozcan la importancia de integrar los testeos moleculares en la práctica clínica estándar, garantizando así un abordaje más preciso y eficaz del cáncer, así como trabajar en mejorar el acceso equitativo a estas tecnologías, asegurando que todos los pacientes puedan beneficiarse de los avances en la medicina oncológica.

Citas

Sparano J, Gray R, Makower D, et al. Adjuvant chemotherapy guided by a 21-gene expression assay in breast cancer. N Engl J Med 2018; 379:111-21. doi: 10.1056/ NEJMoa1804710.

Kalinsky K, Barlow W, Gralow J, et al. 21-Gene assay to inform chemotherapy benefit in node-positive breast cancer. N Engl J Med 2021; 385:2336-47. doi: 10.1056/ NEJMoa2108873.

Cardoso F, van’t Veer LJ, Bogaerts J, et al. 70-Gene signature as an aid to treatment decisions in early-stage breast cancer. N Engl J Med 2016; 375:717-29. doi: 10.1056/ NEJMoa1602253.

Balic M, Thommsen C, Gnant M, et al. St. Gallen/ Vienna 2023: optimization of treatment for patients with primary breast cancer – A brief summary of the consensus discussion. Breast Care 2023; 18:213-22. doi: 10.1159/000530584. DOI: https://doi.org/10.1159/000530584

Cortes J, Rugo H, Cescon D, et al. Pembrolizumab plus chemotherapy in advanced triple-negative breast cancer. N Engl J Med 2022; 387:217-26. doi: 10.1056/ NEJMoa2202809. DOI: https://doi.org/10.1056/NEJMoa2202809

SchmidP,AdamsS,RugoH,etal.Atezolizumabandnab- paclitaxel in advanced triple-negative breast cancer. N Engl J Med 2018; 379:2108-21. doi: 10.1056/NEJMoa1809615. DOI: https://doi.org/10.1056/NEJMoa1809615

Miles D, Gligorov J, André F, et al. Primary results from IMpassion131, a double-blind, placebo-controlled, randomised phase III trial of first-line paclitaxel with or without atezolizumab for unresectable locally advanced/ metastatic triple-negative breast cancer. Ann Oncol 2021; 32:994-1004. doi: 10.1016/j.annonc.2021.05.801. DOI: https://doi.org/10.1016/j.annonc.2021.05.801

André F, Ciruelos E, Rubovszky G, et al. Alpelisib for PIK3CA-mutated, hormone receptor–positive advanced breast cancer. N Engl J Med 2019; 380:1929-40. doi: 10.1056/NEJMoa1813904. DOI: https://doi.org/10.1056/NEJMoa1813904

Tung N, Robson M, Ventz S, et al. TBCRC 048: phase II study of olaparib for metastatic breast cancer and mutations in homologous recombination-related genes. J Clin Oncol 2020; 38:4274-82. doi: 10.1200/JCO.20.02151. DOI: https://doi.org/10.1200/JCO.20.02151

Gruber J, Afghahi A, Timms K, et al. A phase II study of talazoparib monotherapy in patients with wild-type BRCA1 and BRCA2 with a mutation in other homologous recombination genes. Nat Cancer 2022; 3:1181-91. doi: 10.1038/s43018-022-00439-1. DOI: https://doi.org/10.1038/s43018-022-00439-1

André F, Filleron T, Kamad M, et al. Genomics to select treatment for patients with metastatic breast cancer. Nature 2022; 610:343-8. doi: 10.1038/s41586-022-05068-3. DOI: https://doi.org/10.1038/s41586-022-05068-3

Markowitz SD, Bertagnolli MM. Molecular origins of cancer: Molecular basis of colorectal cancer. N Engl J Med 2009; 361:2449–60. doi:10.1056/nejmra0804588. DOI: https://doi.org/10.1056/NEJMra0804588

Heinemann V, von Weikersthal LF, Decker T, et al. FOLFIRI plus cetuximab versus FOLFIRI plus bevacizumab as first- line treatment for patients with metastatic colorectal cancer (FIRE-3): a randomised, open-label, phase 3 trial. Lancet Oncol 2014; 15:1065-75. doi: 10.1016/S1470-2045(14)70330-4. DOI: https://doi.org/10.1016/S1470-2045(14)70330-4

Stintzing S, Miller-Phillips L, Modest DP, et al. Impact of BRAF and RAS mutations on first-line efficacy of FOLFIRI plus cetuximab versus FOLFIRI plus bevacizumab: analysis of the FIRE-3 (AIO KRK-0306) study. Eur J Cancer 2017; 79:50-60. doi: 10.1016/j.ejca.2017.03.023. DOI: https://doi.org/10.1016/j.ejca.2017.03.023

Van Cutsem E, Taieb J, Yaeger R, et al. ANCHOR CRC: Results from a single-arm, phase II study of encorafenib plus binimetinib and cetuximab in previously untreated BRAFV600E-mutant metastatic colorectal cancer. J Clin Oncol 2023; 41:2628-37. doi: 10.1200/JCO.22.01693. DOI: https://doi.org/10.1200/JCO.22.01693

Chalabi M, Fanchi LF, Dijkstra KK, et al. Neoadjuvant immunotherapy leads to pathological responses in MMR- proficient and MMR-deficient early-stage colon cancers. Nat Med 2020; 26:566-76. doi: 10.1038/s41591-020-0805-8. DOI: https://doi.org/10.1038/s41591-020-0805-8

Datos del SEER.Globocan. En: https://gco.iarc.fr/today/ data/factsheets/cancers/27-Prostate-fact-sheet.pdf.; consultado febrero 2024.

Nuhn P, De Bono JS, Fizazi K, et al. Update on systemic prostate cancer therapies: management of metastatic castration-resistant prostate cancer in the era of precision oncology. Eur Urol 2019; 75:88-99. doi: 10.1016/j. eururo.2018.03.028. DOI: https://doi.org/10.1016/j.eururo.2018.03.028

O’Connor MJ. Targeting the DNA damage response in cancer. Mol Cell 2015; 60:547-60. doi: 10.1016/j. molcel.2015.10.040. DOI: https://doi.org/10.1016/j.molcel.2015.10.040

Mateo J, Carreira S, Sandhu S, et al. DNA-repair defects and olaparib in metastatic prostate cancer. N Engl J Med 2015; 373:1697-708. doi: 10.1056/NEJMoa1506859. DOI: https://doi.org/10.1056/NEJMoa1506859

Fong PC, Boss DS, Yap TA, et al. Inhibition of poly(ADP- ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 2009; 361:123-34. doi: 10.1056/ NEJMoa0900212. DOI: https://doi.org/10.1056/NEJMoa0900212

Loriot, Y, Matsubara N, Park S, et al. Erdafitinib or chemotherapy in advanced or metastatic urothelial carcinoma. N Engl J Med 2023; 389:1961-71. doi: 10.1056/ NEJMoa2308849. DOI: https://doi.org/10.1056/NEJMoa2308849

Siefker-Radtke AO, Matsubara N, Park SH, et al. Erdafitinib versus pembrolizumab in pretreated patients with advanced or metastatic urothelial cancer with select FGFR alterations: Cohort 2 of the randomized phase III THOR trial. Ann Oncol 2024; 35: 107-17. doi: 10.1016/j.annonc.2023.10.003. DOI: https://doi.org/10.1016/j.annonc.2023.10.003

Loriot Y, Necchi A, Park SH, et al. Erdafitinib in locally advanced or metastatic urothelial carcinoma. N Engl J Med; 381:338-48. doi: 10.1056/NEJMoa1817323. DOI: https://doi.org/10.1056/NEJMoa1817323

Rathmell WK, Rumble RB, Van Veldhuizen PJ, et al. Management of metastatic clear cell renal cell carcinoma: ASCO Guideline. J Clin 0ncol 2022; 40: 2957-95. doi: 10.1200/JCO.22.00868. DOI: https://doi.org/10.1200/JCO.22.00868

Honecker F, Aparicio J, Berney D, et al. ESMO Consensus Conference Guidelines on testicular germ cell cancer: diagnosis, treatment and follow-up. Ann Oncol 2018; 29: 1658–86. doi: 10.1093/annonc/mdy217. DOI: https://doi.org/10.1093/annonc/mdy217

Brouwer O, Rumble RB, Ayres B, et al. Penile cancer: EAU-ASCO Collaborative Guidelines Update Q and A. JCO Oncol Pract 2024; 20: 33-7. doi: 10.1200/OP.23.00585. DOI: https://doi.org/10.1200/OP.23.00585

Nicholson AG, Tsaro MS, Beasley MB, et al. The 2021 WHO classification of lung tumors: impact of advances since 2015. J Thorac Oncol 2022; 3:362–87. doi: 10.1016/j. jtho.2021.11.003. DOI: https://doi.org/10.1016/j.jtho.2021.11.003

Scagliotti GV, Parikh P, von Pawel J, et al. Phase III study comparing cisplatin plus gemcitabine with cisplatin plus pemetrexed in chemotherapy-naive patients with advanced-stage non–small-cell lung cancer. J Clin Oncol 2008; 26:3543-51. doi: 10.1200/JCO.2007.15.0375. DOI: https://doi.org/10.1200/JCO.2007.15.0375

Gandhi L, Rodríguez-Abreu D, Gadgeel S, et al. Pembrolizumab plus chemotherapy in metastatic non– small-cell lung cancer. N Engl J Med 2018; 378:2078-92. doi: 10.1056/NEJMoa1801005. DOI: https://doi.org/10.1056/NEJMoa1801005

Paz-Ares L, Luft A, Vicente D, et al. Pembrolizumab plus chemotherapy for squamous non–small-cell lung cancer. N Engl J Med 2018; 379:2040-51. doi: 10.1056/ NEJMoa1810865. DOI: https://doi.org/10.1056/NEJMoa1810865

Paz-Ares L, Ciuleanu T-E, Cobo M, et al. First-line nivolumab plus ipilimumab with chemotherapy versus chemotherapy alone for metastatic NSCLC in checkmate 9LA: 3-year clinical update and outcomes in patients with brain metastases or select somatic mutations. J Thorac Oncol 2023; 18:204–22. DOI:https://doi.org/10.1016/j. jtho.2022.10.014. DOI: https://doi.org/10.1016/j.jtho.2022.10.014

Hellmann MD, Paz-Ares L, Caro RB, et al. Nivolumab plus ipilimumab in advanced non–small-cell lung cancer. N Engl J Med 2019; 381:2020-31. doi: 10.1056/NEJMoa1910231. DOI: https://doi.org/10.1056/NEJMoa1910231

Reck M, Rodríguez Abreu D, Robinson AG, et al. Pembrolizumab versus chemotherapy for PD-L1–positive non–small-cell lung cancer. N Engl J Med 2016; 375:1823- 33. doi: 10.1056/NEJMoa1606774. DOI: https://doi.org/10.1056/NEJMoa1606774

Rittmeyer A, Barlesi F, Waterkamp D, et al. Atezolizumab versus docetaxel in patients with previously treated non-small-cell lung cancer (OAK): a phase 3, open-label, multicentre randomised controlled trial. Lancet 2017; 389: 255–65. doi: 10.1016/S0140-6736(16)32517-X. DOI: https://doi.org/10.1016/S0140-6736(16)32517-X

Borghaei H, Paz-Ares L, Horn L, et al. Nivolumab versus docetaxel in advanced nonsquamous non–small-cell lung cancer. N Engl J Med 2015; 373:1627-39. doi: 10.1056/ NEJMoa1507643. DOI: https://doi.org/10.1056/NEJMoa1507643

John A, Yang B, Shah R. Clinical impact of adherence to NCCN guidelines for biomarker testing and first- line treatment in advanced non-small cell lung cancer (aNSCLC) using real-world electronic health record data. Adv Ther 2021; 38:1552-66. doi: 10.1007/s12325-020- 01617-2. DOI: https://doi.org/10.1007/s12325-020-01617-2

Singal G, Miller PG, Agarwala V, et al. Association of patient characteristics and tumor genomics with clinical outcomes among patients with non-small cell lung cancer using a clinicogenomic database. JAMA 2019; 321:1391-9. doi: 10.1001/jama.2019.3241. DOI: https://doi.org/10.1001/jama.2019.3241

Aggarwal C, Marmarelis ME, Hwang W-T, et al. Association between availability of molecular genotyping results and overall survival in patients with advanced nonsquamous non-small-cell lung cancer. JCO Precis Oncol 2023; 7:e2300191. doi: 10.1200/PO.23.00191. DOI: https://doi.org/10.1200/PO.23.00191

Rolfo C, Mack P, Scagliotti GV, et al. Liquid biopsy for advanced NSCLC: a consensus statement from the International Association for the Study of Lung Cancer. J Thorac Oncol 2021; 16:1647-62. doi: 10.1016/j. jtho.2021.06.017. DOI: https://doi.org/10.1016/j.jtho.2021.06.017

Hendriks LE, Kerr KM, Menis J, et al. Oncogene- addicted metastatic non-small-cell lung cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up. Ann Oncol 2023; 34:339-57. doi: 10.1016/j. annonc.2022.12.009. DOI: https://doi.org/10.1016/j.annonc.2022.12.009

Mosele F, Remon J, Mateo J, et al. Recommendations for the use of next-generation sequencing (NGS) for patients with metastatic cancers: a report from the ESMO Precision Medicine Working Group. Ann Oncol 2020; 31:1491-505. doi: 10.1016/j.annonc.2020.07.014. DOI: https://doi.org/10.1016/j.annonc.2020.07.014

Chakravarty D, Johnson A, Sklar J, et al. Somatic genomic testing in patients with metastatic or advanced cancer: ASCO Provisional Clinical Opinion. J Clin Oncol 2022; 40:1231-58. doi: 10.1200/JCO.21.02767. DOI: https://doi.org/10.1200/JCO.21.02767

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15-04-2024

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Waisberg, F., Basbus, L., Rodríguez, A., Ángel, M., Sánchez, R., Castagneris, N., Enrico, D., & Mandó, P. (2024). Recomendaciones de la Asociación Argentina de Oncología Clínica de testeo molecular para alteraciones somáticas en cáncer de mama, colon, pulmón no micrócitico y tumores genitourinarios. Oncología Clínica, 29(1), 15. https://doi.org/10.56969/oc.v29i1.168

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