association Hirschsprung disease-neuroblastoma
Synopsis
familial neuroblastoma (8950328)
hypoventilation (Ondine syndrome)
Etiology
germline PHOX2B mutations
References
Trochet D, O’Brien LM, Gozal D, Trang H, Nordenskjold A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet. 2005 Mar;76(3):421-6. PMID: 15657873
Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frebourg T, Munnich A, Lyonnet S, Delattre O, Amiel J. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet. 2004 Apr;74(4):761-4. PMID: 15024693
Rohrer T, Trachsel D, Engelcke G, Hammer J. Congenital central hypoventilation syndrome associated with Hirschsprung’s disease and neuroblastoma: case of multiple neurocristopathies. Pediatr Pulmonol. 2002 Jan;33(1):71-6. PMID: 11747263
Masumoto K, Arima T, Izaki T, Takahashi Y, Honda N, Toyoshima S, Shimotake T. Ondine’s curse associated with Hirschsprung disease and ganglioneuroblastoma.
J Pediatr Gastroenterol Nutr. 2002 Jan;34(1):83-6. PMID: 11753172
Maris JM, Chatten J, Meadows AT, Biegel JA, Brodeur GM. Familial neuroblastoma: a three-generation pedigree and a further association with Hirschsprung disease. Med Pediatr Oncol. 1997 Jan;28(1):1-5. PMID: 8950328