Single-center application and analysis of neuroblastoma marker detection in childhood neuroblastoma

Ze-Xi YIN, Xin TIAN, Xiang LI, Wen-Fang TANG, Dan-Ning LIU, Xiang-Ling HE

Chinese Journal of Contemporary Pediatrics ›› 2026, Vol. 28 ›› Issue (9) : 1113-1119.

PDF(709 KB)
PDF(709 KB)
Chinese Journal of Contemporary Pediatrics ›› 2026, Vol. 28 ›› Issue (9) : 1113-1119. DOI: 10.7499/j.issn.1008-8830.2512035
CLINICAL RESEARCH

Single-center application and analysis of neuroblastoma marker detection in childhood neuroblastoma

Author information +
History +

Abstract

Objective To investigate the predictive value of mRNA expression of five neuroblastoma (NB) markers—chromogranin A, doublecortin, dopa decarboxylase, paired-like homeobox 2b, and tyrosine hydroxylase (collectively referred to as NB5)—in bone marrow (BM) and peripheral blood (PB) for metastasis and recurrence in pediatric NB, to compare its performance with conventional flow cytometric measurable residual disease (MRD) detection, and to analyze its correlation with progression-free survival (PFS). Methods Clinical data of 47 children with NB admitted to Hunan Provincial People's Hospital from October 2018 to December 2024 were retrospectively collected. Real-time quantitative reverse transcription-polymerase chain reaction was used to detect NB5 expression in BM and PB. Survival was analyzed by the Kaplan-Meier method, and multivariable Cox regression was performed to adjust for confounders. Results A total of 47 children were enrolled, including 44 high-risk (94%) and 3 low-risk (6%) patients. Overall, 99 BM tests were completed. The BM-NB5 positivity rate was 31% (31/99), significantly higher than the MRD positivity rate (19%, 19/99) and the BM morphologic positivity rate (15%, 15/99) (both P<0.001). Among 19 paired BM-PB samples, PB-NB5 was positive in 4 cases and BM-NB5 was positive in 8 cases; the positive concordance rate was 100%, the negative concordance rate was 47%, and the kappa coefficient was 0.321 (weak agreement). Log-rank analysis showed that among MRD-negative patients, the NB5-positive group had significantly shorter PFS than the NB5-negative group (P=0.040). Cox regression indicated a marginal association between NB5 expression and PFS (HR=4.367, 95%CI: 0.896-21.277, P=0.068). Conclusions BM-NB5 detection shows superior sensitivity for MRD identification compared with flow cytometric MRD and BM morphology in high-risk NB patients and can provide early warning of recurrence risk. NB5 expression appears to stratify prognosis in NB, warranting validation in a larger cohort to confirm its independent prognostic value.

Key words

Neuroblastoma / NB5 detection / Real-time quantitative reverse transcription polymerase chain reaction / Child

Cite this article

Download Citations
Ze-Xi YIN , Xin TIAN , Xiang LI , et al . Single-center application and analysis of neuroblastoma marker detection in childhood neuroblastoma[J]. Chinese Journal of Contemporary Pediatrics. 2026, 28(9): 1113-1119 https://doi.org/10.7499/j.issn.1008-8830.2512035

References

[1]
Yue C, Zhang Q, Sun F, et al. Global, regional and national burden of neuroblastoma and other peripheral nervous system tumors, 1990 to 2021 and predictions to 2035: visualizing epidemiological characteristics based on GBD 2021[J]. Neoplasia, 2025, 60: 101122. PMCID: PMC11795104. DOI: 10.1016/j.neo.2025.101122 .
[2]
Morandi F, Corrias MV, Pistoia V. Evaluation of bone marrow as a metastatic site of human neuroblastoma[J]. Ann N Y Acad Sci, 2014, 1335: 23-31. DOI: 10.1111/nyas.12554 .
[3]
Nishimura N, Ishida T, Yokota I, et al. Minimal residual disease detected by the 7NB-mRNAs ddPCR assay is associated with disease progression in high-risk neuroblastoma patients: a prospective multicenter observational study in Japan[J]. Biology (Basel), 2023, 12(10): 1350. PMCID: PMC10604505. DOI: 10.3390/biology12101350 .
[4]
Gelineau NU, Bozsaky E, van Zogchel LMJ, et al. Sensitive detection of minimal residual disease and immunotherapy targets by multi-modal bone marrow analysis in high-risk neuroblastoma: a multi-center study[J]. J Exp Clin Cancer Res, 2025, 44(1): 224. PMCID: PMC12317575. DOI: 10.1186/s13046-025-03481-w .
[5]
Wang Z, Wang C, Xu Y, et al. The application of and factors influencing, the NB5 assay in neuroblastomas[J]. Front Oncol, 2021, 11: 633106. PMCID: PMC8162211. DOI: 10.3389/fonc.2021.633106 .
[6]
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. DOI: 10.1158/1078-0432.CCR-16-2647 .
[7]
Yáñez Y, Hervás D, Grau E, et al. TH and DCX mRNAs in peripheral blood and bone marrow predict outcome in metastatic neuroblastoma patients[J]. J Cancer Res Clin Oncol, 2016, 142(3): 573-580. PMCID: PMC11819078. DOI: 10.1007/s00432-015-2054-7 .
[8]
Grèze V, Brugnon F, Chambon F, et al. Highly sensitive assessment of neuroblastoma minimal residual disease in ovarian tissue using RT-qPCR-A strategy for improving the safety of fertility restoration[J]. Pediatr Blood Cancer, 2017, 64(5): e26287. DOI: 10.1002/pbc.26287 .
[9]
Druĭ AE, Tsaur GA, Popov AM, et al. The TH, ELAVL4 and GD2 gene expression as diagnostic markers of bone marrow lesions in patients with neuroblastoma[J]. Vopr Onkol, 2012, 58(4): 514-520.
[10]
Maman S, Witz IP. The Metastatic Microenvironment[M]//Shurin MR, Umansky V, Malyguine A. The Tumor Immunoenvironment. Dordrecht: Springer Netherlands, 2013: 15-38.
[11]
Janghorban M, Yang Y, Zhao N, et al. Single-cell analysis unveils the role of the tumor immune microenvironment and notch signaling in dormant minimal residual disease[J]. Cancer Res, 2022, 82(5): 885-899. PMCID: PMC8898263. DOI: 10.1158/0008-5472.CAN-21-1230 .
[12]
中国抗癌协会小儿肿瘤专业委员会, 中华医学会小儿外科学分会肿瘤外科学组. 儿童神经母细胞瘤诊疗专家共识[J]. 中华小儿外科杂志, 2015, 36 (1):3-7. DOI:10.3760/cma.j.issn.0253-3006.2015.01.002 .
[13]
中国抗癌协会小儿肿瘤专业委员会,中华医学会小儿外科学分会肿瘤学组. 儿童神经母细胞瘤诊疗专家共识CCCG-NB-2021方案[J]. 中华小儿外科杂志, 2022, 43(7): 588-598. DOI:10.3760/cma.j.cn421158-20211227-00638 .
[14]
Burchill SA, Beiske K, Shimada H, et al. Recommendations for the standardization of bone marrow disease assessment and reporting in children with neuroblastoma on behalf of the International Neuroblastoma Response Criteria Bone Marrow Working Group[J]. Cancer, 2017, 123(7): 1095-1105. DOI: 10.1002/cncr.30380 .
[15]
Asgharzadeh S, Marachelian A, Villablanca JG, et al. Expression of neuroblastoma-related genes in bone marrow at end of high-risk neuroblastoma therapy[J]. Pediatr Blood Cancer, 2022, 69(9): e29719. PMCID: PMC9329214. DOI: 10.1002/pbc.29719 .
[16]
Zhang D, Babayan L, Ho H, et al. Chromogranin a regulates neuroblastoma proliferation and phenotype[J]. Biol Open, 2019, 8(3): bio036566. PMCID: PMC6451332. DOI: 10.1242/bio.036566 .
[17]
Oltra S, Martinez F, Orellana C, et al. The doublecortin gene, a new molecular marker to detect minimal residual disease in neuroblastoma[J]. Diagn Mol Pathol, 2005, 14(1): 53-57. DOI: 10.1097/01.pas.0000149876.32376.c0 .
[18]
Bachetti T, Di Zanni E, Ravazzolo R, et al. miR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells[J]. Biochim Biophys Acta, 2015, 1849(8): 1057-1065. DOI: 10.1016/j.bbagrm.2015.06.008 .
[19]
Yue Z, Gao C, Xing T, et al. Combined analysis of PHOX2B at two time points and its value for further risk stratification in high-risk neuroblastoma[J]. Pediatr Blood Cancer, 2023, 70(5): e30261. DOI: 10.1002/pbc.30261 .
[20]
Stutterheim J, Gerritsen A, Zappeij-Kannegieter L, et al. PHOX2B is a novel and specific marker for minimal residual disease testing in neuroblastoma[J]. J Clin Oncol, 2008, 26(33): 5443-5449. DOI: 10.1200/JCO.2007.13.6531 .
[21]
Bozzi F, Luksch R, Collini P, et al. Molecular detection of dopamine decarboxylase expression by means of reverse transcriptase and polymerase chain reaction in bone marrow and peripheral blood: utility as a tumor marker for neuroblastoma[J]. Diagn Mol Pathol, 2004, 13(3): 135-143. DOI: 10.1097/01.pdm.0000128699.14504.06 .
[22]
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. DOI: 10.1200/JCO.2013.53.3604 .

Footnotes

作者均声明无利益冲突。

PDF(709 KB)

Accesses

Citation

Detail

Sections
Recommended

/