Ziang Zhou

and 5 more

Background: Accurate and early detection of neuroblastoma (NB) metastases is an urgent requirement for clinical diagnosis and treatment. This study aimed to explore the value of a new diagnostic model combining 123I -Metaiodobenzylguanidine (MIBG) scintigraphy, minimal residual disease (MRD) examination and clinical parameters in detecting metastases of NB. Methods: A total of 76 pediatric patients (41 males and 35 females) with both 123I-MIBG scintigraphy and bone marrow (BM) MRD were retrospectively analyzed. MRD were detected using Quantitative reverse transcriptase polymerase chain reaction (qRT-PCR) targeting PHOX2B gene and disseminated NB cells in BM were detected by flow cytometry (FCM). The diagnostic efficacy was assessed by comparing 123I-MIBG scintigraphy and diagnostic model with the gold standard which included pathology, other relevant imaging examinations, and follow-up more than 18 months. The diagnostic efficacy was evaluated using the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and receiver operating characteristic (ROC) curve. The Delong test was used to evaluate the improvement in diagnostic efficacy. Results: Regarding the diagnosis of metastases, 123I-MIBG scintigraphy exhibited high diagnostic value (sensitivity: 57.5%, specificity: 94.4%, PPV: 92.0%, NPV: 66.7%, are under the curve [AUC]: 0.760, with a 95% confidence interval [CI]: 0.649-0.870). After logistic regression analysis, 123I-MIBG scintigraphy, MYCN gene amplification status, chromosome 11q23 aberration, radiotherapy, and BM-MRD based on PHOX2B gene were included in the multi-parameter diagnostic model. The model demonstrated an AUC=0.907 (95% CI: 0.834 - 0.979), with sensitivity, specificity, PPV and NPV of 82.1%, 87.9%, 88.9% and 80.6%, respectively. Conclusion: In the assessment of metastases in pediatric NB patients, the multi-parameter diagnostic model demonstrated superior diagnostic efficacy compared to 123I-MIBG scintigraphy and had the potential to be a promising tool for monitoring residual disease and diagnosing the presence of metastases.