Cell culture and Drosophila model systems define three classes of anaplastic lymphoma kinase mutations in neuroblastoma
A 14-day-old newborn Japanese boy infant diagnosed with neurblastoma was born to unrelated healthy parents with no neuroblastoma history. The tumour was classified as stage 2 and no MYCN amplification nor ALK amplification were detected by array comparative genomic hybridisation (CGH) analysis. This patient is still alive and disease-free, and at this point is 11 years old. DNA ploidy of the tumour was aneuploidy (DNA index was 1.34) and array CGH showed whole chromosome 17 gain, with the pattern of whole chromosomal gains and losses in other multiple chromosomes. The tumour was morphologically diagnosed as favourable according to the Shimada classification (). Tropomyosin-receptor-kinase (Trk) A was highly expressed in the tumour. The A1099T (GCT/ACT) ALK variant appeared to be heterozygous and present in both tumour and blood DNA, suggesting that this is a germline mutation.