WAVE3 , an actin-polymerization gene, is truncated and inactivated as a result of a constitutional t(1;13)(q21;q12) chromosome translocation in a patient with ganglioneuroblastoma

摘要: Neuroblastoma (Nb) is a malignancy of the sympathetic nervous system which affects children in their first decade. It most common extra-cranial solid tumor with an incidence approximately 1 8–10 000 live births annually and accounts for 10% all children's cancers. Ganglioneuroblastoma relatively benign form Nb consists mixture fibrils, mature maturing ganglion cells, as well undifferentiated neuroblasts. During routine cytogenetic analysis patients different manifestations neuroblastoma we have identified one patient ganglioneuroblastoma that carries apparently balanced t(1:13)(q21:q12) reciprocal translocation. Positional cloning translocation breakpoint on chromosome 13 resulted mapping between coding exon 2 3 WAVE3, member WASP gene family. Although region was localized to within 2 kb genomic sequence, no found be interrupted this chromosome. The WAVE3 transcript mainly expressed and, like members family, key element actin polymerization cytoskeleton organization. therefore, important cell differentiation motility its expression lost number low grade stage 4S tumors. From pattern function, candidate suppressor gene, at least some forms neuroblastoma.