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神经母细胞瘤循环肿瘤细胞检测及临床应用进展
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Abstract:
神经母细胞瘤是儿童最常见的颅外实体瘤，具有早期无自觉症状，发病隐匿，极易复发和转移等特点。高危的神经母细胞瘤患者即使进行综合治疗，仍有复发风险，预后不良。通过肿瘤标志物实现对神经母细胞瘤早期筛查，快速诊断，精准治疗，预后监测至关重要。液体活检作为一种非侵入性的肿瘤检测方法，在神经母细胞瘤的诊疗领域具有重要研究意义。循环肿瘤细胞是由原发灶或转移灶脱落进入外周血的肿瘤转移“种子”，是液体活检肿瘤标志物研究的热点之一，可持续无创地评估患者肿瘤转归及临床进展情况。本文主要阐述了神经母细胞瘤循环肿瘤细胞的富集，检测，及其在肿瘤病人的诊疗分期、病情监测、个体化治疗、以及复发耐药监测等方面的临床应用进展。
Neuroblastoma is the most common extracranial solid tumor in children. It has the characteristics of early asymptomatic, insidious onset, and easy recurrence and metastasis. High-risk neuroblastoma patients, even with comprehensive treatment, still have the risk of recurrence and poor prognosis. It is very important to realize early screening, rapid diagnosis, accurate treatment and prognosis monitoring of neuroblastoma through tumor markers. As a non-invasive tumor detection method, liquid biopsy has important research significance in the field of diagnosis and treatment of neuroblastoma. Circulating tumor cells are the “seeds” of tumor metastasis that fall off from the primary tumor or metastasis into the peripheral blood. It is one of the hot spots in the study of liquid biopsy tumor markers, and can continuously and noninvasively evaluate the tumor outcome and clinical progress of patients. This article mainly describes the enrichment and detection of circulating tumor cells in neuroblastoma, and its clinical application progress in the diagnosis and treatment staging, disease monitoring, individualized treatment, and recurrence and drug resistance monitoring of tumor patients.
| [1] | Matthay, K.K., Maris, J.M., Schleiermacher, G., Nakagawara, A., Mackall, C.L., Diller, L., et al. (2016) Neuroblastoma. Nature Reviews Disease Primers, 2, Article No. 16078. https://doi.org/10.1038/nrdp.2016.78 |
| [2] | Stiller, C.A. and Parkin, D.M. (1992) International Variations in the Incidence of Neuroblastoma. International Journal of Cancer, 52, 538-543. https://doi.org/10.1002/ijc.2910520407 |
| [3] | Zeineldin, M., Patel, A.G. and Dyer, M.A. (2022) Neuroblastoma: When Differentiation Goes Awry. Neuron, 110, 2916-2928. https://doi.org/10.1016/j.neuron.2022.07.012 |
| [4] | Maris, J.M., Hogarty, M.D., Bagatell, R. and Cohn, S.L. (2007) Neuroblastoma. The Lancet, 369, 2106-2120. https://doi.org/10.1016/s0140-6736(07)60983-0 |
| [5] | Monclair, T., Brodeur, G.M., Ambros, P.F., Brisse, H.J., Cecchetto, G., Holmes, K., et al. (2009) The International Neuroblastoma Risk Group (INRG) Staging System: An INRG Task Force Report. Journal of Clinical Oncology, 27, 298-303. https://doi.org/10.1200/jco.2008.16.6876 |
| [6] | Schwab, M., Westermann, F., Hero, B. and Berthold, F. (2003) Neuroblastoma: Biology and Molecular and Chromosomal Pathology. The Lancet Oncology, 4, 472-480. https://doi.org/10.1016/s1470-2045(03)01166-5 |
| [7] | Maris, J.M. and Matthay, K.K. (1999) Molecular Biology of Neuroblastoma. Journal of Clinical Oncology, 17, 2264-2264. https://doi.org/10.1200/jco.1999.17.7.2264 |
| [8] | Qiu, B. and Matthay, K.K. (2022) Advancing Therapy for Neuroblastoma. Nature Reviews Clinical Oncology, 19, 515-533. https://doi.org/10.1038/s41571-022-00643-z |
| [9] | Maris, J.M. (2010) Recent Advances in Neuroblastoma. New England Journal of Medicine, 362, 2202-2211. https://doi.org/10.1056/nejmra0804577 |
| [10] | Hao, J., Sang, J., Xu, X. and Bao, A. (2023) Diagnostic Value of CT and MRI Combined with Serum LDH, NSE, CEA, and MYCN in Pediatric Neuroblastoma. World Journal of Surgical Oncology, 21, Article No. 251. https://doi.org/10.1186/s12957-023-03131-5 |
| [11] | Odelstad, L., Phlman, S., Läckgren, G., Larsson, E., Grotte, G. and Nilsson, K. (1982) Neuron Specific Enolase: A Marker for Differential Diagnosis of Neuroblastoma and Wilms’ Tumor. Journal of Pediatric Surgery, 17, 381-385. https://doi.org/10.1016/s0022-3468(82)80494-6 |
| [12] | Uemura, S., Lin, K., Mon Thwin, K.K., Nakatani, N., Ishida, T., Yamamoto, N., et al. (2021) Limited Correlation between Tumor Markers and Minimal Residual Disease Detected by Seven Neuroblastomaassociated mRNAs in Highrisk Neuroblastoma Patients. Molecular and Clinical Oncology, 15, Article No. 137. https://doi.org/10.3892/mco.2021.2299 |
| [13] | Tsuchida, Y., Honna, T., Iwanaka, T., Saeki, M., Taguchi, N., Kaneko, T., et al. (1987) Serial Determination of Serum Neuron-Specific Enolase in Patients with Neuroblastoma and Other Pediatric Tumors. Journal of Pediatric Surgery, 22, 419-424. https://doi.org/10.1016/s0022-3468(87)80261-0 |
| [14] | Simon, T., Hero, B., Hunneman, D.H. and Berthold, F. (2003) Tumour Markers Are Poor Predictors for Relapse or Progression in Neuroblastoma. European Journal of Cancer, 39, 1899-1903. https://doi.org/10.1016/s0959-8049(03)00376-9 |
| [15] | Yang, R., Zheng, S. and Dong, R. (2022) Circulating Tumor Cells in Neuroblastoma: Current Status and Future Perspectives. Cancer Medicine, 12, 7-19. https://doi.org/10.1002/cam4.4893 |
| [16] | Pantel, K. and Alix-Panabières, C. (2019) Liquid Biopsy and Minimal Residual Disease—Latest Advances and Implications for Cure. Nature Reviews Clinical Oncology, 16, 409-424. https://doi.org/10.1038/s41571-019-0187-3 |
| [17] | Su, Y., Wang, L., Wang, X., Yue, Z., Xing, T., Zhao, W., et al. (2019) Dynamic Alterations of Plasma Cell Free DNA in Response to Chemotherapy in Children with Neuroblastoma. Cancer Medicine, 8, 1558-1566. https://doi.org/10.1002/cam4.2045 |
| [18] | Wang, X., Wang, L., Su, Y., Yue, Z., Xing, T., Zhao, W., et al. (2018) Plasma Cell‐Free DNA Quantification Is Highly Correlated to Tumor Burden in Children with Neuroblastoma. Cancer Medicine, 7, 3022-3030. https://doi.org/10.1002/cam4.1586 |
| [19] | Merugu, S., Chen, L., Gavens, E., Gabra, H., Brougham, M., Makin, G., et al. (2020) Detection of Circulating and Disseminated Neuroblastoma Cells Using the Imagestream Flow Cytometer for Use as Predictive and Pharmacodynamic Biomarkers. Clinical Cancer Research, 26, 122-134. https://doi.org/10.1158/1078-0432.ccr-19-0656 |
| [20] | Liu, X.Q., et al. (2018) Circulating Tumor Cells Detection in Neuroblastoma Patients by EpCAM-Independent Enrichment and Immunostaining-Fluorescence in Situ Hybridization. EBioMedicine, 35, 244-250. |
| [21] | Kojima, M., Harada, T., Fukazawa, T., Kurihara, S., Touge, R., Saeki, I., et al. (2023) Single‐Cell Next‐Generation Sequencing of Circulating Tumor Cells in Patients with Neuroblastoma. Cancer Science, 114, 1616-1624. https://doi.org/10.1111/cas.15707 |
| [22] | Batth, I.S., Dao, L., Satelli, A., Mitra, A., Yi, S., Noh, H., et al. (2020) Cell Surface Vimentin-Positive Circulating Tumor Cell-Based Relapse Prediction in a Long-Term Longitudinal Study of Postremission Neuroblastoma Patients. International Journal of Cancer, 147, 3550-3559. https://doi.org/10.1002/ijc.33140 |
| [23] | Wang, Y., Song, Z., Hu, X. and Wang, H. (2021) Circulating Tumor DNA Analysis for Tumor Diagnosis. Talanta, 228, Article ID: 122220. https://doi.org/10.1016/j.talanta.2021.122220 |
| [24] | Rack, B., Schindlbeck, C., Jückstock, J., Andergassen, U., Hepp, P., Zwingers, T., et al. (2014) Circulating Tumor Cells Predict Survival in Early Average-to-High Risk Breast Cancer Patients. JNCI: Journal of the National Cancer Institute, 106, dju066. https://doi.org/10.1093/jnci/dju066 |
| [25] | Gasparri, M.L., Savone, D., Besharat, R.A., Farooqi, A.A., Bellati, F., Ruscito, I., et al. (2015) Circulating Tumor Cells as Trigger to Hematogenous Spreads and Potential Biomarkers to Predict the Prognosis in Ovarian Cancer. Tumor Biology, 37, 71-75. https://doi.org/10.1007/s13277-015-4299-9 |
| [26] | Ma, X., Xiao, Z., Liu, L., Liu, X., Nie, W., Li, P., et al. (2012) Meta-Analysis of Circulating Tumor Cells as a Prognostic Marker in Lung Cancer. Asian Pacific Journal of Cancer Prevention, 13, 1137-1144. https://doi.org/10.7314/apjcp.2012.13.4.1137 |
| [27] | Zhang, H., Lin, X., Huang, Y., Wang, M., Cen, C., Tang, S., et al. (2021) Detection Methods and Clinical Applications of Circulating Tumor Cells in Breast Cancer. Frontiers in Oncology, 11, Article ID: 652253. https://doi.org/10.3389/fonc.2021.652253 |
| [28] | Ring, A., Nguyen-Sträuli, B.D., Wicki, A. and Aceto, N. (2022) Biology, Vulnerabilities and Clinical Applications of Circulating Tumour Cells. Nature Reviews Cancer, 23, 95-111. https://doi.org/10.1038/s41568-022-00536-4 |
| [29] | Bidard, F.C., Kiavue, N., Jacot, W., et al. (2023) Overall Survival with Circulating Tumor Cell Count-Driven Choice of Therapy in Advanced Breast Cancer: A Randomized Trial. Journal of Clinical Oncology, 42, 383-389. |
| [30] | Klotz, R. and Yu, M. (2020) Insights into Brain Metastasis: Recent Advances in Circulating Tumor Cell Research. Cancer Reports, 5, e1239. https://doi.org/10.1002/cnr2.1239 |
| [31] | Labib, M. and Kelley, S.O. (2021) Circulating Tumor Cell Profiling for Precision Oncology. Molecular Oncology, 15, 1622-1646. https://doi.org/10.1002/1878-0261.12901 |
| [32] | Palmela Leitão, T., Miranda, M., Polido, J., Morais, J., Corredeira, P., Alves, P., et al. (2021) Circulating Tumor Cell Detection Methods in Renal Cell Carcinoma: A Systematic Review. Critical Reviews in Oncology/Hematology, 161, Article ID: 103331. https://doi.org/10.1016/j.critrevonc.2021.103331 |
| [33] | 中华医学会检验医学分会分子诊断学组. 循环肿瘤细胞临床应用与实验室检测专家共识[J]. 中华检验医学杂志, 2021(11): 1008-1020. |
| [34] | Loh, A.H.P., Angelina, C., Wong, M.K., Tan, S.H., Sukhatme, S.A., Yeo, T., et al. (2022) Pro-Metastatic and Mesenchymal Gene Expression Signatures Characterize Circulating Tumor Cells of Neuroblastoma Patients with Bone Marrow Metastases and Relapse. Frontiers in Oncology, 12, Article ID: 939460. https://doi.org/10.3389/fonc.2022.939460 |
| [35] | Ashworth, T.R. (1869) A Case of Cancer in Which Cells Similar to Those in the Tumours Were Seen in the Blood after Death. The Medical Journal of Australia, 14, 146-147. |
| [36] | Micalizzi, D.S., Maheswaran, S. and Haber, D.A. (2017) A Conduit to Metastasis: Circulating Tumor Cell Biology. Genes & Development, 31, 1827-1840. https://doi.org/10.1101/gad.305805.117 |
| [37] | Gorges, T.M., Tinhofer, I., Drosch, M., Röse, L., Zollner, T.M., Krahn, T., et al. (2012) Circulating Tumour Cells Escape from EPCAM-Based Detection Due to Epithelial-to-Mesenchymal Transition. BMC Cancer, 12, Article No. 178. https://doi.org/10.1186/1471-2407-12-178 |
| [38] | Guarino, M., Rubino, B. and Ballabio, G. (2007) The Role of Epithelial-Mesenchymal Transition in Cancer Pathology. Pathology, 39, 305-318. https://doi.org/10.1080/00313020701329914 |
| [39] | Guarino, M. (2007) Epithelial-Mesenchymal Transition and Tumour Invasion. The International Journal of Biochemistry & Cell Biology, 39, 2153-2160. https://doi.org/10.1016/j.biocel.2007.07.011 |
| [40] | Bakir, B., Chiarella, A.M., Pitarresi, J.R. and Rustgi, A.K. (2020) EMT, MET, Plasticity, and Tumor Metastasis. Trends in Cell Biology, 30, 764-776. https://doi.org/10.1016/j.tcb.2020.07.003 |
| [41] | Jolly, M.K., Ware, K.E., Gilja, S., Somarelli, J.A. and Levine, H. (2017) Emt and Met: Necessary or Permissive for Metastasis? Molecular Oncology, 11, 755-769. https://doi.org/10.1002/1878-0261.12083 |
| [42] | Padmanaban, V., Krol, I., Suhail, Y., Szczerba, B.M., Aceto, N., Bader, J.S., et al. (2019) E-cadherin Is Required for Metastasis in Multiple Models of Breast Cancer. Nature, 573, 439-444. https://doi.org/10.1038/s41586-019-1526-3 |
| [43] | Fischer, K.R., Durrans, A., Lee, S., Sheng, J., Li, F., Wong, S.T.C., et al. (2015) Epithelial-to-Mesenchymal Transition Is Not Required for Lung Metastasis but Contributes to Chemoresistance. Nature, 527, 472-476. https://doi.org/10.1038/nature15748 |
| [44] | Zheng, X., Carstens, J.L., Kim, J., Scheible, M., Kaye, J., Sugimoto, H., et al. (2015) Epithelial-to-Mesenchymal Transition Is Dispensable for Metastasis but Induces Chemoresistance in Pancreatic Cancer. Nature, 527, 525-530. https://doi.org/10.1038/nature16064 |
| [45] | Gkountela, S., Castro-Giner, F., Szczerba, B.M., Vetter, M., Landin, J., Scherrer, R., et al. (2019) Circulating Tumor Cell Clustering Shapes DNA Methylation to Enable Metastasis Seeding. Cell, 176, 98-112.e14. https://doi.org/10.1016/j.cell.2018.11.046 |
| [46] | Beiske, K., Burchill, S.A., Cheung, I.Y., Hiyama, E., Seeger, R.C., Cohn, S.L., et al. (2009) Consensus Criteria for Sensitive Detection of Minimal Neuroblastoma Cells in Bone Marrow, Blood and Stem Cell Preparations by Immunocytology and QRT-PCR: Recommendations by the International Neuroblastoma Risk Group Task Force. British Journal of Cancer, 100, 1627-1637. https://doi.org/10.1038/sj.bjc.6605029 |
| [47] | Giordano, A., Gao, H., Anfossi, S., Cohen, E., Mego, M., Lee, B., et al. (2012) Epithelial-Mesenchymal Transition and Stem Cell Markers in Patients with HER2-Positive Metastatic Breast Cancer. Molecular Cancer Therapeutics, 11, 2526-2534. https://doi.org/10.1158/1535-7163.mct-12-0460 |
| [48] | Gleghorn, J.P., Pratt, E.D., Denning, D., Liu, H., Bander, N.H., Tagawa, S.T., et al. (2010) Capture of Circulating Tumor Cells from Whole Blood of Prostate Cancer Patients Using Geometrically Enhanced Differential Immunocapture (GEDI) and a Prostate-Specific Antibody. Lab Chip, 10, 27-29. https://doi.org/10.1039/b917959c |
| [49] | Karabacak, N.M., Spuhler, P.S., Fachin, F., Lim, E.J., Pai, V., Ozkumur, E., et al. (2014) Microfluidic, Marker-Free Isolation of Circulating Tumor Cells from Blood Samples. Nature Protocols, 9, 694-710. https://doi.org/10.1038/nprot.2014.044 |
| [50] | Rosenberg, R., Gertler, R., Friederichs, J., Fuehrer, K., Dahm, M., Phelps, R., et al. (2002) Comparison of Two Density Gradient Centrifugation Systems for the Enrichment of Disseminated Tumor Cells in Blood. Cytometry, 49, 150-158. https://doi.org/10.1002/cyto.10161 |
| [51] | Krol, I., Schwab, F.D., Carbone, R., Ritter, M., Picocci, S., De Marni, M.L., et al. (2021) Detection of Clustered Circulating Tumour Cells in Early Breast Cancer. British Journal of Cancer, 125, 23-27. https://doi.org/10.1038/s41416-021-01327-8 |
| [52] | Miller, M.C., Robinson, P.S., Wagner, C. and O’Shannessy, D.J. (2018) The Parsortix™ Cell Separation System—A Versatile Liquid Biopsy Platform. Cytometry Part A, 93, 1234-1239. https://doi.org/10.1002/cyto.a.23571 |
| [53] | Barradas, A. and Terstappen, L. (2013) Towards the Biological Understanding of CTC: Capture Technologies, Definitions and Potential to Create Metastasis. Cancers, 5, 1619-1642. https://doi.org/10.3390/cancers5041619 |
| [54] | Andree, K.C., van Dalum, G. and Terstappen, L.W.M.M. (2015) Challenges in Circulating Tumor Cell Detection by the Cell Search System. Molecular Oncology, 10, 395-407. https://doi.org/10.1016/j.molonc.2015.12.002 |
| [55] | Harb, W., Fan, A., Tran, T., Danila, D.C., Keys, D., Schwartz, M., et al. (2013) Mutational Analysis of Circulating Tumor Cells Using a Novel Microfluidic Collection Device and QPCR Assay. Translational Oncology, 6, 528-538. https://doi.org/10.1593/tlo.13367 |
| [56] | Ning, N., Zhan, T., Zhang, Y., Chen, Q., Feng, F., Yang, Z., et al. (2014) Improvement of Specific Detection of Circulating Tumor Cells Using Combined CD45 Staining and Fluorescence in Situ Hybridization. Clinica Chimica Acta, 433, 69-75. https://doi.org/10.1016/j.cca.2014.02.019 |
| [57] | Liu, Z., Huang, Y., Liang, W., Bai, J., Feng, H., Fang, Z., et al. (2021) Cascaded Filter Deterministic Lateral Displacement Microchips for Isolation and Molecular Analysis of Circulating Tumor Cells and Fusion Cells. Lab on a Chip, 21, 2881-2891. https://doi.org/10.1039/d1lc00360g |
| [58] | Carpenter, E.L., Rader, J., Ruden, J., Rappaport, E.F., Hunter, K.N., Hallberg, P.L., et al. (2014) Dielectrophoretic Capture and Genetic Analysis of Single Neuroblastoma Tumor Cells. Frontiers in Oncology, 4, Article No. 201. https://doi.org/10.3389/fonc.2014.00201 |
| [59] | Lee, N.H., Son, M.H., Choi, Y.B., Yi, E., Lee, J.W., Yoo, K.H., et al. (2016) Clinical Significance of Tyrosine Hydroxylase mRNA Transcripts in Peripheral Blood at Diagnosis in Patients with Neuroblastoma. Cancer Research and Treatment, 48, 1399-1407. https://doi.org/10.4143/crt.2015.481 |
| [60] | Kuroda, T., Morikawa, N., Matsuoka, K., et al. (2008) Prognostic Significance of Circulating Tumor Cells and Bone Marrow Micrometastasis in Advanced Neuroblastoma. Journal of Pediatric Surgery, 43, 2182-2185. |
