Schleiermacher, GMosseri, VLondon, W BMaris, J MBrodeur, G MAttiyeh, EHaber, MKhan, JNakagawara, ASpeleman, FNoguera, RTonini, G PFischer, MAmbros, IMonclair, TMatthay, K KAmbros, PCohn, S LPearson, A D J2014-03-102012Schleiermacher, G., V. Mosseri, W. B. London, J. M. Maris, G. M. Brodeur, E. Attiyeh, M. Haber, et al. 2012. “Segmental chromosomal alterations have prognostic impact in neuroblastoma: a report from the INRG project.” British Journal of Cancer 107 (8): 1418-1422. doi:10.1038/bjc.2012.375. http://dx.doi.org/10.1038/bjc.2012.375.0007-0920http://nrs.harvard.edu/urn-3:HUL.InstRepos:11878924Background: In the INRG dataset, the hypothesis that any segmental chromosomal alteration might be of prognostic impact in neuroblastoma without MYCN amplification (MNA) was tested. Methods: The presence of any segmental chromosomal alteration (chromosome 1p deletion, 11q deletion and/or chromosome 17q gain) defined a segmental genomic profile. Only tumours with a confirmed unaltered status for all three chromosome arms were considered as having no segmental chromosomal alterations. Results: Among the 8800 patients in the INRG database, a genomic type could be attributed for 505 patients without MNA: 397 cases had a segmental genomic type, whereas 108 cases had an absence of any segmental alteration. A segmental genomic type was more frequent in patients >18 months and in stage 4 disease (P<0.0001). In univariate analysis, 11q deletion, 17q gain and a segmental genomic type were associated with a poorer event-free survival (EFS) (P<0.0001, P=0.0002 and P<0.0001, respectively). In multivariate analysis modelling EFS, the parameters age, stage and a segmental genomic type were retained in the model, whereas the individual genetic markers were not (P<0.0001 and RR=2.56; P=0.0002 and RR=1.8; P=0.01 and RR=1.7, respectively). Conclusion: A segmental genomic profile, rather than the single genetic markers, adds prognostic information to the clinical markers age and stage in neuroblastoma patients without MNA, underlining the importance of pangenomic studies.en-USneuroblastomagenetic alterationsgenomic profileprognosisINRGJournal Article2014-03-1010.1038/bjc.2012.375