Rare Occurrence of PHOX2b Mutations in Sporadic Neuroblastomas
| Autor: | Beate Häberle, Guido Fitze, Inke R. König, Alexandre Serra, Hans K. Schackert, Dietmar Roesner, Roland Kappler, Meinolf Suttorp |
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| Rok vydání: | 2008 |
| Předmět: |
Homeodomain Proteins
Male Polymorphism Genetic business.industry Infant Sequence Analysis DNA Hematology Bioinformatics Autonomic Diseases Neuroblastoma Oncology Genetic marker Case-Control Studies Child Preschool Mutation Pediatrics Perinatology and Child Health Humans Medicine Female Genetic Predisposition to Disease Child business Autonomic neuron Transcription Factors |
| Zdroj: | Journal of Pediatric Hematology/Oncology. 30:728-732 |
| ISSN: | 1077-4114 |
| DOI: | 10.1097/mph.0b013e3181772141 |
| Popis: | Neuroblastomas (NBs) are frequent solid tumors in childhood for which no specific genetic marker linked to their development has been identified to date. PHOX2b, which regulates the autonomic neuron development, has been associated with the development of autonomic diseases, and has been considered a potential candidate gene for neural crest-derived tumors such as NB. To ascertain the role of the PHOX2b gene in NB development, we have sequenced the complete PHOX2b coding region in tumors from 69 patients with sporadic NB, while 130 blood donors served as negative controls and 9 NB cell lines as positive controls. We found a missense deletion in exon 3 in a cell line. A further silent mutation in exon 3 (c.870CA) was observed in 3 tumors but in none of the controls. A new polymorphism in intron 1 (IVS1-114 GA) was observed in 31 tumor samples (44.9%) and in 68 controls (52.3%). We did not find any conclusive association of the polymorphisms or mutations in PHOX2b with the development of NB, although the large confidence intervals neither substantiate nor exclude a role for this gene in the tumor etiology. |
| Databáze: | OpenAIRE |
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