{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:28:47Z","timestamp":1761823727355},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2015,5,22]],"date-time":"2015-05-22T00:00:00Z","timestamp":1432252800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:sec><jats:label \/><jats:p>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\u2010like homeobox 2b (<jats:italic>PHOX2B<\/jats:italic>) non\u2010polyalanine\u2010repeat\u2010expansion mutations. To the best of our knowledge, we report the first case of a child with CCHS and Hirschsprung disease who had a <jats:italic>PHOX2B<\/jats:italic> polyalanine\u2010repeat\u2010expansion mutation (PARM) (genotype 20\/33) and developed high\u2010risk neuroblastoma. We further describe his treatment including chemotherapy and therapeutic I<jats:sup>131<\/jats:sup>\u2010metaiodobenzylguanidine. This case highlights the need to consider neuroblastoma in patients with CCHS and the longest <jats:italic>PHOX2B<\/jats:italic> PARMs and to individualize treatment based on co\u2010morbidities. Pediatr Blood Cancer \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.25572","type":"journal-article","created":{"date-parts":[[2015,5,22]],"date-time":"2015-05-22T17:16:21Z","timestamp":1432314981000},"page":"2007-2010","source":"Crossref","is-referenced-by-count":13,"title":["Treatment of neuroblastoma in congenital central hypoventilation syndrome with a <i>PHOX2B<\/i> polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome"],"prefix":"10.1002","volume":"62","author":[{"given":"Amy E.","family":"Armstrong","sequence":"first","affiliation":[{"name":"Department of Pediatrics Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debra E.","family":"Weese\u2010Mayer","sequence":"additional","affiliation":[{"name":"Ann &amp; Robert H. 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