Genome wide analysis of imprinting gene in pediatric solid tumor

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Analysis of ALK mutation in 99 cases with Ewing sarcoma revealed 4 novel missense mutations. Functional analysis of ALK showed autophosphorylation and tumor formation in nude mouse. Another mechanism of aberrant ALK activation was observed in a neuroblastoma cell line, in which a short-form ALK protein having a truncated extracellular domain is overexpressed. ALK-transduced NIH3T3 cells exhibited increased colony-forming capacity in soft agar and tumorigenicity in nude mice. SNP array analyses of 55 rhabdomyosarcoma(RMS) samples showed that the embrynal RMS was characterized by hyperploidy, significantly associated with gains of chromosomes 2, 8 and 12, whereas the majority of alveolar RMS cases exhibited near-diploid copy number profiles. Loss of heterozygosity of 15q was highly detected in alveolar RMS. Gain of 13q was significantly associated with good patient outcome in embryonal RMS.