Neonatal neuroblastoma

Semin Fetal Neonatal Med. 2012 Aug;17(4):207-215. doi: 10.1016/j.siny.2012.05.002. Epub 2012 Jun 4.


Neuroblastoma, an embryonal tumour arising from the sympathetic nervous system, is the most common neonatal malignancy accounting for >20% of neonatal cancers. It may present as an antenatal adrenal mass or more commonly with localised or metastatic (4s/Ms) disease, which is usually low risk with a very good clinical outcome. Around 20% of neonatal neuroblastoma presents with spinal cord compression requiring prompt diagnosis and treatment with steroids and chemotherapy to relieve the cord compression. Patients with stage Ms disease without life- or organ-threatening symptoms or adverse genetic features (MYCN amplification or segmental chromosomal abnormalities) can be safely observed for spontaneous regression which may also occur with other localised neonatal neuroblastomas. Universal mass screening for neuroblastoma is not indicated but targeted screening of infants at risk of hereditary neuroblastoma with germline ALK or PHOX2B mutations is appropriate. Future studies will be aimed at observing more patients without adverse genetics or life-threatening features.

Publication types

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

MeSH terms

  • Anaplastic Lymphoma Kinase
  • Diagnosis, Differential
  • Family Health
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism
  • Humans
  • Incidence
  • Infant
  • Infant, Newborn
  • Mutation
  • Neuroblastoma / diagnosis*
  • Neuroblastoma / epidemiology
  • Neuroblastoma / etiology
  • Neuroblastoma / therapy
  • Opsoclonus-Myoclonus Syndrome / etiology
  • Prognosis
  • Receptor Protein-Tyrosine Kinases / genetics
  • Receptor Protein-Tyrosine Kinases / metabolism
  • Spinal Cord Compression / etiology
  • Transcription Factors / genetics
  • Transcription Factors / metabolism


  • Homeodomain Proteins
  • NBPhox protein
  • Transcription Factors
  • ALK protein, human
  • Anaplastic Lymphoma Kinase
  • Receptor Protein-Tyrosine Kinases