Abstract

Activating mutations in the gene encoding anaplastic lymphoma kinase (ALK) have recently been observed in familial neuroblastoma suggesting that ALK mutations may contribute to the pathogenesis of this malignancy. In sporadic neuroblastoma, a subgroup of tumors harbors either mutations or amplifications of the ALK gene (George et al., Nature 2008). Nevertheless, the spectrum and incidence of mutations in sporadic NB has only partially been addressed, and no data has been available for patients within the German Neuroblastoma Study. We here re-sequenced the kinase-domain encoding exons of the ALK gene in 280 well-documented patients of the German Neuroblastoma Study Cohort. In addition, the ALK gene copy number was analysed by aCGH or real-time PCR. Data regarding the correlation of ALK gene alterations with clinical patient parameters, as well as correlations of the ALK gene copy number with ALK mRNA and protein expression levels will be presented.

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