PHOX2B -associated Congenital Central Hypoventilation Syndrome Revealed Upon Treatment With Dinutuximab-beta

J Pediatr Hematol Oncol. 2025 Apr 1;47(3):144-147. doi: 10.1097/MPH.0000000000003005. Epub 2025 Feb 17.

Abstract

Alterations of PHOX2B function is associated with a wide range of diseases, including congenital central hypoventilation syndrome (CCHS) and neural crest-derived tumors, from low-grade (ganglioneuromas) to malignant forms (neuroblastomas). We report a case bearing a novel nonpolyalanine repeat PHOX2B pathogenic variant presenting both as high-risk neuroblastoma and late-onset CCHS. CCHS was revealed upon severe respiratory decompensation while the patient was administered the anti-GD2 antibody dinutuximab-beta, as part of neuroblastoma treatment. From this experience, we make propositions for the management of patients with high-risk neuroblastoma and a constitutional pathogenic variant of PHOX2B .

Publication types

  • Case Reports

MeSH terms

  • Antibodies, Monoclonal* / adverse effects
  • Antibodies, Monoclonal* / therapeutic use
  • Homeodomain Proteins* / genetics
  • Humans
  • Hypoventilation* / congenital
  • Hypoventilation* / congenital
  • Hypoventilation* / diagnosis
  • Hypoventilation* / drug therapy
  • Hypoventilation* / genetics
  • Neuroblastoma* / drug therapy
  • Neuroblastoma* / genetics
  • Neuroblastoma* / pathology
  • Sleep Apnea, Central* / diagnosis
  • Sleep Apnea, Central* / drug therapy
  • Sleep Apnea, Central* / genetics
  • Transcription Factors* / genetics

Substances

  • Antibodies, Monoclonal
  • dinutuximab
  • Homeodomain Proteins
  • NBPhox protein
  • Transcription Factors

Supplementary concepts

  • Congenital central hypoventilation syndrome