{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T08:02:52Z","timestamp":1770969772811,"version":"3.50.1"},"reference-count":28,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,8,1]]},"abstract":"<jats:p>The neurocristopathy syndrome occurs because of a germline mutation of the paired-like homeobox 2b (PHOX2B) gene at 4p12, a neurogenesis regulator gene. The result is abnormal neural crest cell development resulting in congenital central hypoventilation syndrome, Hirschsprung disease, and neuroblastoma (NB), which is often multifocal and disseminated in its presentation. Previously, such widespread disease was regarded as highly aggressive and treated either with palliative intent or, conversely, with very intense, high-dose chemotherapy. We now present a patient who had neurocristopathy syndrome who had multifocal NB associated with an underlying germline PHOX2B mutation. He was treated conservatively with surgery and low-dose chemotherapy. After treatment he had extensive residual disease that has continued to mature despite no further treatment. A literature review identified 26 similar patients presenting with multifocal NB as part of the neurocristopathy syndrome. In all cases the NB behaved in an indolent manner with no deaths from tumor reported when patients received appropriate treatment. These provocative findings suggest for the first time that children who have neurocristopathy-associated NB should be treated conservatively, despite the aggressive appearance of their disease.<\/jats:p>","DOI":"10.1542\/peds.2013-3340","type":"journal-article","created":{"date-parts":[[2014,7,29]],"date-time":"2014-07-29T04:00:34Z","timestamp":1406606434000},"page":"e611-e616","source":"Crossref","is-referenced-by-count":21,"title":["Outcomes in Multifocal Neuroblastoma as Part of the Neurocristopathy Syndrome"],"prefix":"10.1542","volume":"134","author":[{"given":"Phoebe","family":"Williams","sequence":"first","affiliation":[{"name":"Kids Cancer Centre, Sydney Children\u2019s Hospital, Randwick, New South Wales, Australia;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Wegner","sequence":"additional","affiliation":[{"name":"Prince of Wales Hospital, Randwick, New South Wales, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David S.","family":"Ziegler","sequence":"additional","affiliation":[{"name":"Kids Cancer Centre, Sydney Children\u2019s Hospital, Randwick, New South Wales, Australia;"},{"name":"School of Women\u2019s and Children\u2019s Health, Faculty of Medicine, University of New South Wales, Australia; and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2014,8,1]]},"reference":[{"issue":"8","key":"2021120903420244100_B1","doi-asserted-by":"crossref","first-page":"1955","DOI":"10.1002\/(SICI)1097-0142(20000415)88:8<1955::AID-CNCR26>3.0.CO;2-2","article-title":"Yokoyama T, Hiyama K, et al. 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Neuroblastomas with chromosomal 11q loss and single copy MYCN comprise a biologically distinct group of tumours with adverse prognosis.","volume":"85","author":"Oude Luttikhuis","year":"2001","journal-title":"Br J Cancer"},{"issue":"4","key":"2021120903420244100_B12","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1086\/383253","article-title":"Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.","volume":"74","author":"Trochet","year":"2004","journal-title":"Am J Hum Genet"},{"issue":"23","key":"2021120903420244100_B13","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1056\/NEJM196712072772304","article-title":"Familial neuroblastoma. 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