Neuroblastoma (NB), the most prevalent extracranial solid tumor in children, poses a significant therapeutic challenge due to its metastasis and high heterogeneity. A recent study leveraging single-cell RNA sequencing (scRNA-seq) has uncovered vital molecular mechanisms underlying NB's progression and metastasis, shedding light on potential therapeutic targets. The research analyzed primary tumors and matched metastases from NB patients, revealing a "starter" subpopulation of tumor cells responsible for initiating metastasis.

The study is published in the journal Frontiers of Medicine . By applying various analytical approaches, including evolutionary trajectory analysis and cell-state differentiation prediction, the study delineates the transcriptional landscape of NB and identifies a signature associated with poor prognosis . The investigation involved collecting tumor samples from six NB patients, encompassing both primary and metastatic sites.

These samples were subjected to scRNA-seq to generate a comprehensive single-cell expression atlas. The analysis revealed 11 distinct clusters, each with unique transcriptional features, highlighting the heterogeneity of NB. Through inferred copy number variation (CNV) analysis and whole genomic sequencing (WGS), malignant cells were distinguished from non-malignant cells, facilitating a deeper understanding of tumor cell populations.

The study's trajectory analysis pinpointed a specific cluster, termed starter cells, as the likely .