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

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...

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Bibliographic Details
Published in:Pediatric blood & cancer 2015-11, Vol.62 (11), p.2007-2010
Main Authors: Armstrong, Amy E., Weese-Mayer, Debra E., Mian, Amir, Maris, John M., Batra, Vandana, Gosiengfiao, Yasmin, Reichek, Jennifer, Madonna, Mary Beth, Bush, Jonathan W., Shore, Richard M., Walterhouse, David O.
Format: Article
Language:English
Subjects:
Adult
Cancer
Chemotherapy
congenital central hypoventilation syndrome
Expansion
Genotypes
Hematology
Hirschsprung's disease
Homeobox
Homeodomain Proteins - genetics
Humans
Hypoventilation
Male
MIBG
Mutation
Neuroblastoma
Neuroblastoma - genetics
Neuroblastoma - pathology
Neuroblastoma - therapy
neurocristopathy
Obesity Hypoventilation Syndrome - genetics
Obesity Hypoventilation Syndrome - pathology
Obesity Hypoventilation Syndrome - therapy
Oncology
Patients
Pediatrics
Peptides - genetics
PHOX2B
Phox2b protein
Polyalanine
Transcription Factors - genetics
Trinucleotide Repeat Expansion
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Summary: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. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc.
ISSN:1545-5009
1545-5017
DOI:10.1002/pbc.25572