Single-nuclei transcriptomes from human adrenal gland reveal distinct cellular identities of low and high-risk neuroblastoma tumors

Nat Commun. 2021 Sep 7;12(1):5309. doi: 10.1038/s41467-021-24870-7.

Abstract

Childhood neuroblastoma has a remarkable variability in outcome. Age at diagnosis is one of the most important prognostic factors, with children less than 1 year old having favorable outcomes. Here we study single-cell and single-nuclei transcriptomes of neuroblastoma with different clinical risk groups and stages, including healthy adrenal gland. We compare tumor cell populations with embryonic mouse sympatho-adrenal derivatives, and post-natal human adrenal gland. We provide evidence that low and high-risk neuroblastoma have different cell identities, representing two disease entities. Low-risk neuroblastoma presents a transcriptome that resembles sympatho- and chromaffin cells, whereas malignant cells enriched in high-risk neuroblastoma resembles a subtype of TRKB+ cholinergic progenitor population identified in human post-natal gland. Analyses of these populations reveal different gene expression programs for worst and better survival in correlation with age at diagnosis. Our findings reveal two cellular identities and a composition of human neuroblastoma tumors reflecting clinical heterogeneity and outcome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adrenal Gland Neoplasms / genetics*
  • Adrenal Gland Neoplasms / metabolism
  • Adrenal Gland Neoplasms / mortality
  • Adrenal Gland Neoplasms / pathology
  • Adrenal Glands / metabolism*
  • Adrenal Glands / pathology
  • Animals
  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism
  • Cell Differentiation
  • Cell Nucleus / genetics
  • Cell Nucleus / metabolism
  • Child, Preschool
  • Chromaffin Cells / metabolism
  • Chromaffin Cells / pathology
  • Early Diagnosis
  • Female
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Infant
  • Male
  • Membrane Glycoproteins / genetics*
  • Membrane Glycoproteins / metabolism
  • Mice
  • Neoplasm Proteins / classification
  • Neoplasm Proteins / genetics*
  • Neoplasm Proteins / metabolism
  • Neuroblastoma / genetics*
  • Neuroblastoma / metabolism
  • Neuroblastoma / mortality
  • Neuroblastoma / pathology
  • Receptor, trkB / genetics*
  • Receptor, trkB / metabolism
  • Risk Assessment
  • Single-Cell Analysis
  • Species Specificity
  • Survival Analysis
  • Transcriptome*

Substances

  • Biomarkers, Tumor
  • Membrane Glycoproteins
  • Neoplasm Proteins
  • Receptor, trkB
  • tropomyosin-related kinase-B, human