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

Research paper by Amy E AE Armstrong, Debra E DE Weese-Mayer, Amir A Mian, John M JM Maris, Vandana V Batra, Yasmin Y Gosiengfiao, Jennifer J Reichek, Mary Beth MB Madonna, Jonathan W JW Bush, Richard M RM Shore, David O DO Walterhouse

Indexed on: 27 May '15Published on: 27 May '15Published in: Pediatric Blood & Cancer


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.