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Neuroblastoma: Molecular Pathology, Diagnostics and Therapeutics

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 30 January 2026 | Viewed by 734

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Laboratory of Cellular and Molecular Pharmacology, Section of Neurosciences, University of Cagliari, 09042 Monserrato, Italy
Interests: cell signaling; apoptosis; neurotrophins; cytokines; neuroscience
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Special Issue Information

Dear Colleagues,

Neuroblastoma is the most common extracranial solid tumor in children, accounting for 15% of all pediatric cancer-related deaths. Despite advances in multimodal therapy, high-risk neuroblastoma remains a major challenge due to its aggressive nature and resistance to treatment. Recent insights into the molecular pathology of neuroblastoma have revealed key genetic and epigenetic alterations driving tumor progression, including MYCN amplification, ALK mutations, and dysregulation of developmental pathways. These discoveries have paved the way for novel diagnostic and therapeutic strategies aimed at improving patient outcomes.

This Special Issue aims to bring together cutting-edge research on the molecular mechanisms underlying neuroblastoma, innovative diagnostic tools, and emerging therapeutic approaches. We welcome original research articles and reviews covering topics such as tumor heterogeneity, genetic and epigenetic biomarkers, single-cell and multi-omics analyses, and novel imaging techniques. Additionally, we seek contributions on targeted therapies, immunotherapeutic approaches, and personalized medicine strategies designed to overcome drug resistance and improve survival rates.

This Special Issue will compile the latest advancements in neuroblastoma research, providing a comprehensive overview of the field and fostering collaboration among researchers, clinicians, and industry experts. We invite scientists worldwide to contribute their findings and insights to drive the development of innovative neuroblastoma diagnosis and treatment solutions.

Join us in this endeavor to accelerate translational research and improve outcomes for children affected by this devastating disease.

Dr. Simona Dedoni
Guest Editor

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Keywords

  • neuroblastoma
  • solid cancer
  • immature nerve cells
  • molecular mechanism
  • biomarker
  • tumor heterogeneity

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Published Papers (1 paper)

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Research

21 pages, 1877 KB  
Article
Ganglioside Profiling Uncovers Distinct Patterns in High-Risk Neuroblastoma
by Claudia Paret, Arthur Wingerter, Larissa Seidmann, Arsenij Ustjanzew, Shobha Sathyamurthy, Jannis Ludwig, Philipp Schwickerath, Chiara Brignole, Fabio Pastorino, Saskia Wagner, Khalifa El Malki, Wilfried Roth, Roger Sandhoff and Jörg Faber
Int. J. Mol. Sci. 2025, 26(17), 8431; https://doi.org/10.3390/ijms26178431 - 29 Aug 2025
Viewed by 407
Abstract
High-risk (HR) neuroblastoma (NBL) patients often receive standardized treatment despite wide variations in clinical outcomes, underscoring the need for improved stratification tools. A distinguishing feature of NBL is the patient-specific expression of gangliosides (GGs), particularly GD2, which may serve as biomarkers. We analyzed [...] Read more.
High-risk (HR) neuroblastoma (NBL) patients often receive standardized treatment despite wide variations in clinical outcomes, underscoring the need for improved stratification tools. A distinguishing feature of NBL is the patient-specific expression of gangliosides (GGs), particularly GD2, which may serve as biomarkers. We analyzed GG profiles in 18 patient-derived tumors and 11 NBL cell lines using thin-layer chromatography and mass spectrometry. Expression of 0-, a-, and b-series GGs was examined and correlated with clinical risk, outcome, and gene expression data. Low-risk (LR) tumors expressed higher levels of complex b-series GGs. In HR tumors, five GG profiles (A–E) were identified. Profile A featured complex b-series GGs; B showed GD2 dominance; C showed synthesis arrest at GM3 or GD3 due to low expression of the GM2/GD2 synthase, encoded by the B4GALNT1 gene; D included complex a- and b-series GGs; and E was marked by GM2 and GD1a prevalence. B4GALNT1 expression served as a prognostic marker. Relapsed tumors following anti-GD2 therapy typically exhibited reduced GD2 levels, except for one profile A tumor that displayed a ceramide anchor shorter than those found in LR tumors. Astonishingly, the ceramide anchor composition of GD2 itself appears to separate LR and HR NBL, hinting at a role of ceramide synthases in NBL biology. All cell lines expressed GM2, but exhibited very low levels of complex b-series GGs. Profile C was found only in cell lines of the mesenchymal subtype. These findings support further investigation of GG composition and associated enzyme expression as potential biomarkers for risk stratification and treatment response in NBL. Full article
(This article belongs to the Special Issue Neuroblastoma: Molecular Pathology, Diagnostics and Therapeutics)
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