Germline Mutations of the Paired–Like Homeobox 2B ( PHOX2B) Gene in Neuroblastoma

Neuroblastoma (NB) is a frequent pediatric tumor for which recurrent somatic rearrangements are known. Germline mutations of predisposing gene(s) are suspected on the basis of rare familial cases and the association of NB with other genetically determined congenital malformations of neural crest–der...

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Published in:American journal of human genetics 2004-04, Vol.74 (4), p.761-764
Main Authors: Trochet, Delphine, Bourdeaut, Franck, Janoueix-Lerosey, Isabelle, Deville, Anne, de Pontual, Loïc, Schleiermacher, Gudrun, Coze, Carole, Philip, Nicole, Frébourg, Thierry, Munnich, Arnold, Lyonnet, Stanislas, Delattre, Olivier, Amiel, Jeanne
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
Female
Genetic Predisposition to Disease - genetics
Germ-Line Mutation - genetics
Homeodomain Proteins - genetics
Humans
Male
Medical sciences
Neuroblastoma - genetics
Neurology
Pedigree
Transcription Factors - genetics
Tumors of the nervous system. Phacomatoses
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Summary:Neuroblastoma (NB) is a frequent pediatric tumor for which recurrent somatic rearrangements are known. Germline mutations of predisposing gene(s) are suspected on the basis of rare familial cases and the association of NB with other genetically determined congenital malformations of neural crest–derived cells—namely, Hirschsprung disease (HSCR) and/or congenital central hypoventilation syndrome (CCHS). We recently identified the paired–like homeobox 2B ( PHOX2B) gene as the major disease-causing gene in isolated and syndromic CCHS, which prompted us to regard it as a candidate gene in NB. Here, we report on germline mutations of PHOX2B in both a familial case of NB and a patient with the HSCR-NB association. PHOX2B, therefore, stands as the first gene for which germline mutations predispose to NB.
ISSN:0002-9297
1537-6605
DOI:10.1086/383253