Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma |
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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 |
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Affiliation: | Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, and Département de Génétique, H?pital Necker-Enfants Malades, Paris, France. |
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Abstract: | 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. |
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