Many fusion methods have been proposed, for instance, late fusion using a loss function [22] or feature amplification-multiplication [18].
Some primer pairs showed an interesting feature of amplification in most of the accessions but no amplification in accessions of one section or species.
Applying this methodology, we demonstrated that lung adenocarcnomas with ALK fusion feature less amplification of loci with oncogenes and fewer deletions of loci related to tumour suppressor genes, although global chromosome aberrations were similar between tumours with and without ALK fusion.
Most notably low grade osteosarcoma arising on the surface of bone may feature 12q14 amplifications [ 13] while extraosseous osteosarcoma are complex genomic sarcoma without recurrent MDM2 amplifications.
Differences in the proportions of labile chromosomal features in amplification patterns and within border bands or inside amplification patterns were determined using a hypothesis test (Table 1).
Statistically relevant variables (p ≤ 0.05) for EFS included clinical (M-stage), histopathological (presence of large cell component, endothelial proliferations, speckled synaptophysin expression), and molecular features (MYC amplification, chromosome 6q status, TOP2A copy-number (located on 17q), and methylation-based subgrouping.
Currently, patients are identified as high-risk according to anatomical presence of disease at diagnosis (international neuroblastoma staging system, INSS), age, histology, and the presence of genetic features, including amplification of the MYCN oncogene, chromosome 11q deletion, and diploidy (Maris et al, 2007; Cohn et al, 2009; Maris, 2010).
Interestingly, this region is genetically altered in a variety of tumours featuring deletions, amplifications and translocations (Toledo et al, 2010; Forzano et al, 2012), and the C19MC miRNA cluster has been extensively implicated in cancer and other diseases (Pfister et al, 2009; Rippe et al, 2010; Vaira et al, 2012).
The appendix contains a short discussion of the additional feature of parametric amplification observed in our device.
