Biopsia líquida en oncología: estado actual y limitaciones en la práctica clínica

Autores/as

DOI:

https://doi.org/10.62305/biosana.v6i3.1099

Palabras clave:

Biopsia líquida, ADN tumoral circulante, ADN libre circulante, biomarcadores del cáncer, células tumorales circulantes

Resumen

La biopsia líquida constituye una herramienta complementaria en oncología, debido a su capacidad para detectar alteraciones moleculares y monitorear dinámicamente la evolución tumoral mediante la obtención de muestras biológicas que no requieren procedimientos invasivos. Su utilidad se relaciona con biomarcadores como el DNA tumoral circulante (ctDNA), el DNA libre circulante (cfDNA), las células tumorales circulantes (CTC), las vesículas extracelulares, los exosomas y los RNA circulares (circRNA). El objetivo de este estudio fue analizar el estado actual de la biopsia líquida en oncología y sus principales limitaciones en la práctica clínica. Para ello, se realizó una revisión bibliográfica de publicaciones recientes sobre biomarcadores, técnicas de detección y aplicaciones clínicas en distintos tipos de cáncer. Los hallazgos evidenciaron una mayor aplicación del ctDNA y cfDNA en cáncer de pulmón, mama, colorrectal, hígado, endometrio y tiroides, principalmente para genotipificación, seguimiento terapéutico, detección de recurrencia y resistencia adquirida. Asimismo, las CTC, exosomas, vesículas extracelulares y RNA circulares (circRNA) demostraron potencial en el diagnóstico temprano y el monitoreo tumoral. Sin embargo, el rendimiento diagnóstico varió según el biomarcador, el tipo de cáncer y la metodología empleada. En conclusión, la biopsia líquida aporta valor clínico en el seguimiento oncológico, pero actualmente no sustituye a la biopsia tisular debido a limitaciones de sensibilidad, estandarización y validación clínica.

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Gromek P, Senkowska Z, Płuciennik E, Pasieka Z, Zhao LY, Gielecińska A, et al. Revisiting the standards of cancer detection and therapy alongside their comparison to modern methods. World J Methodol. 2024 Jun 20;14(2). Disponible en: https://doi.org/10.5662/wjm.v14.i2.92982

Zafar S, Hafeez A, Shah H, Mutiullah I, Ali A, Khan K, et al. Emerging biomarkers for early cancer detection and diagnosis: challenges, innovations, and clinical perspectives. European Journal of Medical Research 2025 30:1. 2025 Aug 18;30(1):760-. Disponible en: https://doi.org/10.1186/S40001-025-03003-6

Xie S, Wang Y, Gong Z, Li Y, Yang W, Liu G, et al. Liquid Biopsy and Tissue Biopsy Comparison with Digital PCR and IHC/FISH for HER2 Amplification Detection in Breast Cancer Patients. J Cancer. 2022;13(3):744–751. Disponible en: https://doi.org/10.7150/JCA.66567

Malla M, Loree JM, Kasi PM, Parikh AR. Using Circulating Tumor DNA in Colorectal Cancer: Current and Evolving Practices. Journal of Clinical Oncology. 2022 Aug 20;40(24):2846. Disponible en: https://doi.org/10.1200/JCO.21.02615

Sisodiya S, Kasherwal V, Khan A, Roy B, Goel A, Kumar S, et al. Liquid Biopsies: Emerging role and clinical applications in solid tumours. Transl Oncol. 2023;35:101716. Disponible en: https://doi.org/10.1016/j.tranon.2023.101716

Ren F, Fei Q, Qiu K, Zhang Y, Zhang H, Sun L. Liquid biopsy techniques and lung cancer: diagnosis, monitoring and evaluation. Journal of Experimental & Clinical Cancer Research 2024 43:1. 2024 Apr 1;43(1):96-. Disponible en: https://doi.org/10.1186/S13046-024-03026-7

Ho HY, Chung KS, Kan CM, Wong SC. Liquid Biopsy in the Clinical Management of Cancers. International Journal of Molecular Sciences 2024, Vol 25, Page 8594. 2024 Aug 6;25(16):8594. Disponible en: https://doi.org/10.3390/IJMS25168594

Myrkhiyeva Z, Seitkamal K, Ashikbayeva Z, Taizhanova A, Tosi D, Bekmurzayeva A. Circulating tumor cells: overcoming challenges of detecting a needle in a haystack. Explor Target Antitumor Ther. 2025;6:1002321. Disponible en: https://doi.org/10.37349/ETAT.2025.1002321

Zhang Z, Wu H, Chong W, Shang L, Jing C, Li L. Liquid biopsy in gastric cancer: predictive and prognostic biomarkers. Cell Death & Disease 2022 13:10. 2022 Oct 27;13(10):903-. Disponible en: https://doi.org/10.1038/s41419-022-05350-2

Li HY, Chang CC, Yang YH, Yao CY, Chia-Hsun Hsieh J, Chang SH. The prospects and limitations of liquid biopsy utilization for clinical practice in Taiwan. The Journal of Liquid Biopsy. 2025 Mar 1;7:100290. Disponible en: https://doi.org/10.1016/J.JLB.2025.100290

Westphal M, Pantel K, Ricklefs FL, Maire C, Riethdorf S, Mohme M, et al. Circulating tumor cells and extracellular vesicles as liquid biopsy markers in neuro-oncology: prospects and limitations. Neurooncol Adv. 2022 Nov 1;4(Suppl 2):ii45. Disponible en: https://doi.org/10.1093/NOAJNL/VDAC015

DEL SOCORRO GALEANO MOLINA M, GUERRON-GÓMEZ G, PLAZAS VARGAS M, PARRA-MEDINA R. The NGS and PCR-based Detection of EGFR Mutations in Liquid Biopsy: A Systematic Review and Meta-analysis Compared With Tissue Biopsy in Treatment-naïve Patients With Non-small Cell Lung Cancer. Cancer Diagnosis & Prognosis. 2026 Jan 3;6(1):12–23. Disponible en: https://doi.org/10.21873/CDP.10502

Yuan L, Chen Y, Ke L, Zhou Q, Chen J, Fan M, et al. Plasma extracellular vesicle phenotyping for the differentiation of early-stage lung cancer and benign lung diseases. Nanoscale Horiz. 2023 May 30;8(6):746–58. Disponible en: https://doi.org/10.1039/D2NH00570K

Agulnik JS, Papadakis AI, Pepe C, Sakr L, Small D, Wang H, et al. Cell-Free Tumor DNA (ctDNA) Utility in Detection of Original Sensitizing and Resistant EGFR Mutations in Non-Small Cell Lung Cancer (NSCLC). Current Oncology 2022, Vol 29, Pages 1107-1116. 2022 Feb 13;29(2):1107–16. Disponible en: https://doi.org/10.3390/CURRONCOL29020094

Cheng S, Nguyen ET, Fukui JA. Utilizing Liquid Biopsy for Treatment Management in Bone-Dominant Metastatic Breast Cancer: A Case Report. Case Rep Oncol. 2022 Dec 29;15(3):854–60. Disponible en: https://doi.org/10.1159/000526642

Overs A, Peixoto P, Hervouet E, Molimard C, Monnien F, Durand J, et al. COL25A1 and METAP1D DNA methylation are promising liquid biopsy epigenetic biomarkers of colorectal cancer using digital PCR. Clinical Epigenetics 2024 16:1. 2024 Oct 18;16(1):146-. Disponible en: https://doi.org/10.1186/S13148-024-01748-1

Ganig N, Baenke F, Thepkaysone ML, Lin K, Rao VS, Wong FC, et al. Proteomic Analyses of Fibroblast- and Serum-Derived Exosomes Identify QSOX1 as a Marker for Non-invasive Detection of Colorectal Cancer. Cancers 2021, Vol 13, Page 1351. Disponible en: https://doi.org/10.3390/CANCERS13061351

Zhang Y, Liu Z, Ji K, Li X, Wang C, Ren Z, et al. Clinical Application Value of Circulating Cell-free DNA in Hepatocellular Carcinoma. Front Mol Biosci. 2021 Sep 29;8:736330. Disponible en: https://doi.org/10.3389/fmolb.2021.736330

Tong Y, Jia L, Li M, Li H, Wang S. Identification of exosomal circSLC26A4 as a liquid biopsy marker for cervical cancer. PLoS One. 2024 Jun 1;19(6):e0305050. doi:10.1371/JOURNAL.PONE.0305050. Disponible en: https://doi.org/10.1371/JOURNAL.PONE.0305050

Ren J, Lu P, Zhou X, Liao Y, Liu X, Li J, et al. Genome-Scale Methylation Analysis of Circulating Cell-Free DNA in Gastric Cancer Patients. Clin Chem. 2022 Feb 1;68(2):354–64. Disponible en: https://doi.org/10.1093/CLINCHEM/HVAB204

Varkalaite G, Forster M, Franke A, Kupcinskas J, Skieceviciene J. Liquid Biopsy in Gastric Cancer: Analysis of Somatic Cancer Tissue Mutations in Plasma Cell-Free DNA for Predicting Disease State and Patient Survival. Clin Transl Gastroenterol. 2021 Sep 24;12(9). Disponible en: https://doi.org/10.14309/CTG.0000000000000403

Roy S, Kanda M, Nomura S, Zhu Z, Toiyama Y, Taketomi A, et al. Diagnostic efficacy of circular RNAs as noninvasive, liquid biopsy biomarkers for early detection of gastric cancer. Molecular Cancer 2022 21:1. 2022 Feb 9;21(1):42-. Disponible en: https://doi.org/10.1186/S12943-022-01527-7

Zhou H, Zhang X, Liu Q, Yang J, Bai J, Yin M, et al. Can circulating cell free DNA be a promising marker in ovarian cancer? – a genome-scale profiling study in a single institution. Journal of Ovarian Research 2023 16:1. 2023 Jan 14;16(1):11-. Disponible en: https://doi.org/10.1186/S13048-022-01068-Z

Wadsley M, Guttery D, Cowley C, Donaldson G, Moreman C, Hew R, et al. Design and evaluation of a custom circulating tumour DNA assay to detect endometrial cancer recurrence. npj Precision Oncology 2025 10:1. 2026 Mar 23;10(1):127-. Disponible en: https://doi.org/10.1038/s41698-025-01246-4

Cadena-Ullauri S, Ruiz-Pozo VA, Paz-Cruz E, Tamayo-Trujillo R, Guevara-Ramírez P, Jaramillo-Calvas O, et al. Evaluating Liquid Biopsy for Circulating Tumor DNA (ctDNA) Detection as a Complementary Diagnostic Tool in Thyroid Cancer Among Ecuadorian Women. Int J Mol Sci. 2025 Jul 1;26(14):6987. Disponible en: https://doi.org/10.3390/IJMS26146987

Yang J, Xu R, Wang C, Qiu J, Ren B, You L. Early screening and diagnosis strategies of pancreatic cancer: a comprehensive review. Cancer Commun. 2021 Dec 1;41(12):1257. Disponible en: https://doi.org/10.1002/CAC2.12204

Ju Y, Watson J, Wang JJ, Yen YT, Gevorkian L, Chen Z, et al. B7-H3-liquid biopsy for the characterization and monitoring of the dynamic biology of prostate cancer. Drug Resistance Updates. 2025 Mar 1;79:101207. Disponible en: https://doi.org/10.1016/J.DRUP.2025.101207

Muchlińska A, Smentoch J, Żaczek AJ, Bednarz-Knoll N. Detection and Characterization of Circulating Tumor Cells Using Imaging Flow Cytometry—A Perspective Study. Cancers 2022, Vol 14,. 2022 Aug 28;14(17). Disponible en: https://doi.org/10.3390/CANCERS14174178

Li W, Liu J Bin, Hou LK, Yu F, Zhang J, Wu W, et al. Liquid biopsy in lung cancer: significance in diagnostics, prediction, and treatment monitoring. Molecular Cancer 2022 21:1. 2022 Jan 20;21(1):25-. Disponible en: https://doi.org/10.1186/S12943-022-01505-Z

Borkar S, Markus F, Oetting A, Schmidt S, Vössing C, Horst D, et al. Detection of ESR1 Mutations in Tissue and Liquid Biopsy with Novel Next-Generation Sequencing and Digital Droplet PCR Assays: Insights from Multi-Center Real Life Data of Almost 6000 Patients. Cancers (Basel). 2025 Apr 1;17(8):1266. Disponible en: https://doi.org/10.3390/CANCERS17081266

Crucitta S, Ruglioni M, Novi C, Manganiello M, Arici R, Petrini I, et al. Comparison of digital PCR systems for the analysis of liquid biopsy samples of patients affected by lung and colorectal cancer. Clinica Chimica Acta. 2023 Feb 15;541:117239. doi:10.1016/J.CCA.2023.117239. Disponible en: https://doi.org/10.1016/J.CCA.2023.117239

Ma L, Guo H, Zhao Y, Liu Z, Wang C, Bu J, et al. Liquid biopsy in cancer: current status, challenges and future prospects. Signal Transduction and Targeted Therapy 2024 9:1. 2024 Dec 2;9(1):336-. Disponible en: https://doi.org/10.1038/s41392-024-02021-w

Nikanjam M, Kato S, Kurzrock R. Liquid biopsy: current technology and clinical applications. Journal of Hematology & Oncology 2022 15:1. 2022 Sep 12;15(1):131-. doi:10.1186/S13045-022-01351-Y. Disponible en: https://doi.org/10.1186/S13045-022-01351-Y

Song P, Wu LR, Yan YH, Zhang JX, Chu T, Kwong LN, et al. Limitations and opportunities of technologies for the analysis of cell-free DNA in cancer diagnostics. Nature Biomedical Engineering 2022 6:3. 2022 Jan 31;6(3):232–45. Disponible en: https://doi.org/10.1038/s41551-021-00837-3

Connal S, Cameron JM, Sala A, Brennan PM, Palmer DS, Palmer JD, et al. Liquid biopsies: the future of cancer early detection. Journal of Translational Medicine 2023 21:1. 2023 Feb 11;21(1):118-. Disponible en: https://doi.org/10.1186/S12967-023-03960-8

Ding Z, Wang N, Ji N, Chen ZS. Proteomics technologies for cancer liquid biopsies. Molecular Cancer 2022 21:1. 2022 Feb 15;21(1):53-. Disponible en: https://doi.org/10.1186/S12943-022-01526-8

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Publicado

2026-05-18

Cómo citar

Pungaña Pradilla, M. O., & Yauli Flores, C. F. (2026). Biopsia líquida en oncología: estado actual y limitaciones en la práctica clínica. Revista Científica De Salud BIOSANA, 6(3), 71–84. https://doi.org/10.62305/biosana.v6i3.1099

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