Recent clinical research on the application of liquid biopsy in neuroblastoma

LIU Si-Yang; WEN Fei-Qiu

doi:10.7499/j.issn.1008-8830.2112120

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Chinese Journal of Contemporary Pediatrics ›› 2022, Vol. 24 ›› Issue (3) : 339-344. DOI: 10.7499/j.issn.1008-8830.2112120

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Recent clinical research on the application of liquid biopsy in neuroblastoma

LIU Si-Yang, WEN Fei-Qiu

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Abstract

Neuroblastoma (NB) is the most common extracranial solid tumor in children and has the features of high recurrence rate and low survival rate, and therefore, early diagnosis, treatment response evaluation, and recurrence monitoring are of great significance for NB patients. Liquid biopsy refers to the detection of cells and nucleic acids in fluid specimens, mainly blood. It is noninvasive and can overcome tumor heterogeneity, thus making it possible to achieve the early diagnosis and dynamic detection of NB. This review introduces the latest advances in clinical research on the application of liquid biopsy in NB.

Key words

Neuroblastoma / Liquid biopsy / Circulating tumor cell / Circulating tumor DNA / Exosome / Child

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LIU Si-Yang, WEN Fei-Qiu. Recent clinical research on the application of liquid biopsy in neuroblastoma[J]. Chinese Journal of Contemporary Pediatrics. 2022, 24(3): 339-344 https://doi.org/10.7499/j.issn.1008-8830.2112120

References

1 Park JR, Kreissman SG, London WB, et al. Effect of tandem autologous stem cell transplant vs single transplant on event-free survival in patients with high-risk neuroblastoma: a randomized clinical trial[J]. JAMA, 2019, 322(8): 746-755. PMID: 31454045. PMCID: PMC6714031. DOI: 10.1001/jama.2019.11642.
2 Uemura S, Ishida T, Thwin KKM, et al. Dynamics of minimal residual disease in neuroblastoma patients[J]. Front Oncol, 2019, 9: 455. PMID: 31214500. PMCID: PMC6558004. DOI: 10.3389/fonc.2019.00455.
3 Siravegna G, Marsoni S, Siena S, et al. Integrating liquid biopsies into the management of cancer[J]. Nat Rev Clin Oncol, 2017, 14(9): 531-548. PMID: 28252003. DOI: 10.1038/nrclinonc.2017.14.
4 Gkountela S, Castro-Giner F, Szczerba BM, et al. Circulating tumor cell clustering shapes DNA methylation to enable metastasis seeding[J]. Cell, 2019, 176(1-2): 98-112.e14. PMID: 30633912. PMCID: PMC6363966. DOI: 10.1016/j.cell.2018.11.046.
5 Merugu S, Chen L, Gavens E, et al. Detection of circulating and disseminated neuroblastoma cells using the ImageStream flow cytometer for use as predictive and pharmacodynamic biomarkers[J]. Clin Cancer Res, 2020, 26(1): 122-134. PMID: 31767563. DOI: 10.1158/1078-0432.CCR-19-0656.
6 Batth IS, Dao L, Satelli A, et al. Cell surface vimentin-positive circulating tumor cell-based relapse prediction in a long-term longitudinal study of postremission neuroblastoma patients[J]. Int J Cancer, 2020, 147(12): 3550-3559. PMID: 32506485. PMCID: PMC7839076. DOI: 10.1002/ijc.33140.
7 Kreissman SG, Seeger RC, Matthay KK, et al. Purged versus non-purged peripheral blood stem-cell transplantation for high-risk neuroblastoma (COG A3973): a randomised phase 3 trial[J]. Lancet Oncol, 2013, 14(10): 999-1008. PMID: 23890779. PMCID: PMC3963485. DOI: 10.1016/S1470-2045(13)70309-7.
8 Viprey VF, Gregory WM, Corrias MV, et al. Neuroblastoma mRNAs predict outcome in children with stage 4 neuroblastoma: a European HR-NBL1/SIOPEN study[J]. J Clin Oncol, 2014, 32(10): 1074-1083. PMID: 24590653. DOI: 10.1200/JCO.2013.53.3604.
9 Marachelian A, Villablanca JG, Liu CW, et al. Expression of five neuroblastoma genes in bone marrow or blood of patients with relapsed/refractory neuroblastoma provides a new biomarker for disease and prognosis[J]. Clin Cancer Res, 2017, 23(18): 5374-5383. PMID: 28559462. DOI: 10.1158/1078-0432.CCR-16-2647.
10 Thwin KKM, Ishida T, Uemura S, et al. Level of seven neuroblastoma-associated mRNAs detected by droplet digital PCR is associated with tumor relapse/regrowth of high-risk neuroblastoma patients[J]. J Mol Diagn, 2020, 22(2): 236-246. PMID: 31837427. DOI: 10.1016/j.jmoldx.2019.10.012.
11 Heitzer E, Haque IS, Roberts CES, et al. Current and future perspectives of liquid biopsies in genomics-driven oncology[J]. Nat Rev Genet, 2019, 20(2): 71-88. PMID: 30410101. DOI: 10.1038/s41576-018-0071-5.
12 Van Roy N, Van Der Linden M, Menten B, et al. Shallow whole genome sequencing on circulating cell-free DNA allows reliable noninvasive copy-number profiling in neuroblastoma patients[J]. Clin Cancer Res, 2017, 23(20): 6305-6314. PMID: 28710315. DOI: 10.1158/1078-0432.CCR-17-0675.
13 Wang X, Wang L, Su Y, et al. Plasma cell-free DNA quantification is highly correlated to tumor burden in children with neuroblastoma[J]. Cancer Med, 2018, 7(7): 3022-3030. PMID: 29905010. PMCID: PMC6051223. DOI: 10.1002/cam4.1586.
14 Chicard M, Colmet-Daage L, Clement N, et al. Whole-exome sequencing of cell-free DNA reveals temporo-spatial heterogeneity and identifies treatment-resistant clones in neuroblastoma[J]. Clin Cancer Res, 2018, 24(4): 939-949. PMID: 29191970. DOI: 10.1158/1078-0432.CCR-17-1586.
15 Chicard M, Boyault S, ColmetDaage L, et al. Genomic copy number profiling using circulating free tumor DNA highlights heterogeneity in neuroblastoma[J]. Clin Cancer Res, 2016, 22(22): 5564-5573. PMID: 27440268. DOI: 10.1158/1078-0432.CCR-16-0500.
16 Cimmino F, Lasorsa VA, Vetrella S, et al. A targeted gene panel for circulating tumor DNA sequencing in neuroblastoma[J]. Front Oncol, 2020, 10: 596191. PMID: 33381456. PMCID: PMC7769379. DOI: 10.3389/fonc.2020.596191.
17 Iehara T, Yagyu S, Gotoh T, et al. A prospective evaluation of liquid biopsy for detecting MYCN amplification in neuroblastoma patients[J]. Jpn J Clin Oncol, 2019, 49(8): 743-748. PMID: 31053863. DOI: 10.1093/jjco/hyz063.
18 Peitz C, Sprüssel A, Linke RB, et al. Multiplexed quantification of four neuroblastoma DNA targets in a single droplet digital PCR reaction[J]. J Mol Diagn, 2020, 22(11): 1309-1323. PMID: 32858250. DOI: 10.1016/j.jmoldx.2020.07.006.
19 Aygun N. Biological and genetic features of neuroblastoma and their clinical importance[J]. Curr Pediatr Rev, 2018, 14(2): 73-90. PMID: 29380702. DOI: 10.2174/1573396314666180129101627.
20 Kahana-Edwin S, Cain LE, McCowage G, et al. Neuroblastoma molecular risk-stratification of DNA copy number and ALK genotyping via cell-free circulating tumor DNA profiling[J]. Cancers (Basel), 2021, 13(13): 3365. PMID: 34282791. PMCID: PMC8267662. DOI: 10.3390/cancers13133365.
21 Applebaum MA, Barr EK, Karpus J, et al. 5-Hydroxymethylcytosine profiles in circulating cell-free DNA associate with disease burden in children with neuroblastoma[J]. Clin Cancer Res, 2020, 26(6): 1309-1317. PMID: 31852832. PMCID: PMC7073281. DOI: 10.1158/1078-0432.CCR-19-2829.
22 van Zogchel LMJ, Lak NSM, Verhagen OJHM, et al. Novel circulating hypermethylated RASSF1A ddPCR for liquid biopsies in patients with pediatric solid tumors[J]. JCO Precis Oncol, 2021, 5: PO.21.00130. PMID: 34820594. PMCID: PMC8608265. DOI: 10.1200/PO.21.00130.
23 van Zogchel LMJ, van Wezel EM, van Wijk J, et al. Hypermethylated RASSF1A as circulating tumor DNA marker for disease monitoring in neuroblastoma[J]. JCO Precis Oncol, 2020, 4: PO.19.00261. PMID: 32923888. PMCID: PMC7446415. DOI: 10.1200/PO.19.00261.
24 Yu W, Hurley J, Roberts D, et al. Exosome-based liquid biopsies in cancer: opportunities and challenges[J]. Ann Oncol, 2021, 32(4): 466-477. PMID: 33548389. PMCID: PMC8268076. DOI: 10.1016/j.annonc.2021.01.074.
25 Kalluri R, LeBleu VS. The biology, function, and biomedical applications of exosomes[J]. Science, 2020, 367(6478): eaau6977. PMID: 32029601. PMCID: PMC7717626. DOI: 10.1126/science.aau6977.
26 Ignatiadis M, Sledge GW, Jeffrey SS. Liquid biopsy enters the clinic—implementation issues and future challenges[J]. Nat Rev Clin Oncol, 2021, 18(5): 297-312. PMID: 33473219. DOI: 10.1038/s41571-020-00457-x.
27 Zeka F, Decock A, Van Goethem A, et al. Circulating microRNA biomarkers for metastatic disease in neuroblastoma patients[J]. JCI Insight, 2018, 3(23): 97021. PMID: 30518699. PMCID: PMC6328024. DOI: 10.1172/jci.insight.97021.
28 Morini M, Cangelosi D, Segalerba D, et al. Exosomal microRNAs from longitudinal liquid biopsies for the prediction of response to induction chemotherapy in high-risk neuroblastoma patients: a proof of concept SIOPEN study[J]. Cancers (Basel), 2019, 11(10): 1476. PMID: 31575060. PMCID: PMC6826693. DOI: 10.3390/cancers11101476.
29 Colletti M, Petretto A, Galardi A, et al. Proteomic analysis of neuroblastoma-derived exosomes: new insights into a metastatic signature[J]. Proteomics, 2017, 17(23-24): 1600430. PMID: 28722341. DOI: 10.1002/pmic.201600430.
30 DegliEsposti C, Iadarola B, Maestri S, et al. Exosomes from plasma of neuroblastoma patients contain doublestranded DNA reflecting the mutational status of parental tumor cells[J]. Int J Mol Sci, 2021, 22(7): 3667. PMID: 33915956. PMCID: PMC8036333. DOI: 10.3390/ijms22073667.
31 Kahlert C. Liquid biopsy: is there an advantage to analyzing circulating exosomal DNA compared to cfDNA or are they the same?[J]. Cancer Res, 2019, 79(10): 2462-2465. PMID: 31043377. DOI: 10.1158/0008-5472.CAN-19-0019.
32 Gerber T, Taschner-Mandl S, Saloberger-Sindh?ringer L, et al. Assessment of pre-analytical sample handling conditions for comprehensive liquid biopsy analysis[J]. J Mol Diagn, 2020, 22(8): 1070-1086. PMID: 32497717. DOI: 10.1016/j.jmoldx.2020.05.006.