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

Amy E. Armstrong, Debra E. Weese-Mayer, Amir Mian, John M. Maris, Vandana Batra, Yasmin Gosiengfiao, Jennifer Reichek, Mary Beth Madonna, Jonathan W. Bush, Richard M. Shore, David O. Walterhouse*

*Corresponding author for this work

Research output: Contribution to journalArticle

5 Scopus citations


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 I131-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.

Original languageEnglish (US)
Pages (from-to)2007-2010
Number of pages4
JournalPediatric Blood and Cancer
Issue number11
StatePublished - Nov 1 2015



  • Chemotherapy
  • Congenital central hypoventilation syndrome
  • MIBG
  • Neuroblastoma
  • Neurocristopathy
  • PHOX2B

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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