Chromosomes in Ewing's sarcoma. II. Nonrandom additional changes, trisomy 8 and der(16)t(1;16)

Array CGH and gene-expression profiling reveals distinct genomic instability patterns associated with DNA repair and cell-cycle checkpoint pathways in Ewing's sarcoma

“…Their genetic hallmark is the presence of the reciprocal t(11;22)(q24;q12) translocation (Aurias et al, 1984;Mugneret et al, 1988), or other less frequent variant translocations t(21;22)(q12;q12) and t(7;22)(p22;q12), and their morphology falls in the smallblue-round-cells category. The t(11;22) translocation leads to the fusion of the EWS gene on 22q12 with the FLI1 gene on 11q24, resulting in the formation and expression of the chimaeric transcript EWS-FLI1 (Delattre et al, 1992) that is thought to contribute to the pathogenesis of this tumour by modulating the expression of target genes.…”

“…The most common correspond to trisomies of chromosome 8 (Mugneret et al, 1988), 12 and gain of DNA sequences in 1q (Armengol et al, 1997). The relation between these secondary changes and clinical outcome is quite controversial.…”

Prognostic impact of chromosomal aberrations in Ewing tumours

“…In addition to the rearrangements involving 22q12, non-random chromosomal aberrations occur in more than 50% of cytogenetically analysed ETs (Sandberg and Bridge, 2000;Mitelman et al, 2001). Chromosome gain is the most frequent event, of which trisomy 8 is the most common found in almost 50% of the cases, with gains of 2, 12 and 20 also being frequent non-random events (Mugneret et al, 1988;Kullendorff et al, 1999). Additional structural aberrations are less common than numerical changes, although unbalanced rearrangements involving chromosomes 1 and 16 are quite frequently seen.…”

“…Additional structural aberrations are less common than numerical changes, although unbalanced rearrangements involving chromosomes 1 and 16 are quite frequently seen. In the majority of these cases the net imbalance is gain of 1q with simultaneous loss of 16q (Mugneret et al, 1988;Douglass et al, 1990;Hattinger et al, 1996;Armengol et al, 1997;Stark et al, 1997;Kullendorff et al, 1999;Tarkkanen et al, 1999).…”

Musculoskeletal Oncology:Advances in Cytogenetics and Molecular Genetics and their Clinical Implications

“…In 5-lo'% of tumors, variant translocations have also been observed by molecular genetic and cytogenetic analyses, most commonly as t(21;22)(q22;q12) (42)(43)(44). Non-random aberrations such as trisomy 8 and translocations involving chromsomes 1 and 16 have also been reported (45). The fact that an identical t(l1;22)(q24;q12) has been observed in neuroepithelioma, Askin tumors and esthesioneuroblastomas (46)(47)(48)(49) (48,50).…”