Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome

Pediatr Blood Cancer. 2015 Nov;62(11):2007-10. doi: 10.1002/pbc.25572. Epub 2015 May 22.

Abstract

Neuroblastoma in patients with congenital central hypoventilation syndrome (CCHS) as part of a neurocristopathy syndrome is a rare finding and has only been associated with paired-like homeobox 2b (PHOX2B) non-polyalanine-repeat-expansion mutations. To the best of our knowledge, we report the first case of a child with CCHS and Hirschsprung disease who had a PHOX2B polyalanine-repeat-expansion mutation (PARM) (genotype 20/33) and developed high-risk neuroblastoma. We further describe his treatment including chemotherapy and therapeutic I(131) -metaiodobenzylguanidine. This case highlights the need to consider neuroblastoma in patients with CCHS and the longest PHOX2B PARMs and to individualize treatment based on co-morbidities.

Keywords: MIBG; PHOX2B; chemotherapy; congenital central hypoventilation syndrome; neuroblastoma; neurocristopathy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Neuroblastoma* / genetics
  • Neuroblastoma* / pathology
  • Neuroblastoma* / therapy
  • Obesity Hypoventilation Syndrome* / genetics
  • Obesity Hypoventilation Syndrome* / pathology
  • Obesity Hypoventilation Syndrome* / therapy
  • Peptides / genetics*
  • Transcription Factors / genetics*
  • Trinucleotide Repeat Expansion*

Substances

  • Homeodomain Proteins
  • NBPhox protein
  • Peptides
  • Transcription Factors
  • polyalanine