title: Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome.
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.
authors.affiliation: Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.
authors.forename: Amy E
authors.initials: AE
authors.lastname: Armstrong
authors.affiliation: Ann & Robert H. Lurie Children's Hospital of Chicago, Center for Autonomic Medicine in Pediatrics (CAMP), Northwestern University of Feinberg School of Medicine and Stanley Manne Children's Research Institute, Chicago, Illinois.
authors.forename: Debra E
authors.initials: DE
authors.lastname: Weese-Mayer
authors.affiliation: Department of Pediatric Hematology-Oncology, College of Medicine, Arkansas Children's Hospital, University of Arkansas Medical Sciences, Little Rock, Arkansas.
authors.forename: Amir
authors.initials: A
authors.lastname: Mian
authors.affiliation: Division of Hematology, Oncology & Transplantation, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine and Abramson Family Center Research Institute, Philadelphia, Pennsylvania.
authors.forename: John M
authors.initials: JM
authors.lastname: Maris
authors.affiliation: Division of Hematology, Oncology & Transplantation, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine and Abramson Family Center Research Institute, Philadelphia, Pennsylvania.
authors.forename: Vandana
authors.initials: V
authors.lastname: Batra
authors.affiliation: Division of Hematology, Oncology & Transplantation, Robert Lurie Comprehensive Cancer Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Yasmin
authors.initials: Y
authors.lastname: Gosiengfiao
authors.affiliation: Division of Hematology, Oncology & Transplantation, Robert Lurie Comprehensive Cancer Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Reichek
authors.affiliation: Department of Pediatric Surgery, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Mary Beth
authors.initials: MB
authors.lastname: Madonna
authors.affiliation: Department of Pathology, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Jonathan W
authors.initials: JW
authors.lastname: Bush
authors.affiliation: Department of Medical Imaging, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Richard M
authors.initials: RM
authors.lastname: Shore
authors.affiliation: Division of Hematology, Oncology & Transplantation, Robert Lurie Comprehensive Cancer Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: David O
authors.initials: DO
authors.lastname: Walterhouse
mesh_terms: D000328:Adult; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009447:Neuroblastoma / Q000235:genetics / Q000473:pathology / Q000628:therapy; D010845:Obesity Hypoventilation Syndrome / Q000235:genetics / Q000473:pathology / Q000628:therapy; D010455:Peptides / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D010455:Peptides; D014157:Transcription Factors; C019529:polyalanine
keywords: MIBG; PHOX2B; chemotherapy; congenital central hypoventilation syndrome; neuroblastoma; neurocristopathy