Genetic imbalances revealed by comparative genomic hybridization in Ewing tumors
✍ Scribed by Toshifumi Ozaki; Michael Paulussen; Christopher Poremba; Christian Brinkschmidt; Julio Rerin; Susanne Ahrens; Christiane Hoffmann; Axel Hillmann; Daniel Wai; Karl-Ludwig Schaefer; Werner Boecker; Heribert Juergens; Winfried Winkelmann; Barbara Dockhorn-Dworniczak
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 123 KB
- Volume
- 32
- Category
- Article
- ISSN
- 1045-2257
- DOI
- 10.1002/gcc.1178
No coin nor oath required. For personal study only.
✦ Synopsis
Abstract
Ewing tumors are characterized by reciprocal translocations involving the EWS gene on 22q12 fused to ETS transcription‐factor family members. Little is known about further aberrations contributing to tumor development and progression. Sixty‐two frozen tumors with known EWS rearrangements (52 primary tumors, 10 relapses) of ET patients registered in the EICESS protocol were analyzed by comparative genomic hybridization (CGH). The median number of changes in 52 primary and 10 relapsed cases was 2.5 and 5.0 per tumor (P = 0.153). Frequent abnormalities included gains of chromosomes 8, 12, 20, and 1q and losses of 16q and 19q. Neither number nor type of aberration was associated with histology, tumor size, disease stage, tumor localization, or histologic tumor response to chemotherapy. Among the 52 primary tumors, 26 with Type I fusion (EWS exon 7 to FLI1 exon 6) and 26 with other fusion types had a median of 2.0 and 3.0 aberrations per tumor, respectively (P = 0.031). Combinations of gains of chromosomes 8 and 12, gains of chromosome 20, and either gains of 8q or 18q and losses of 16q and 17p frequently occurred. The cumulative overall survival (OAS) was different between 35 patients with <5 aberrations and 13 patients with ≥5 aberrations (P = 0.009). Univariate analysis showed that patients with gains of 1q, 2q, 12, and 20 or losses of 16q and 17p had significantly lower OAS than those without aberrations. By multivariate analysis, loss of 16q (relative risk [RR] = 5.3; P = 0.0006) was an independent prognostic factor. © 2001 Wiley‐Liss, Inc.
📜 SIMILAR VOLUMES
We used comparative genomic hybridization (CGH) to evaluate DNA sequence copy number changes in 67 synovial sarcomas of both monophasic and biphasic histological subtypes. Changes (mean among aberrant cases: 4.7 aberrations/tumor; range: 1-17), affecting most often entire chromosomes or chromosome a
Familial occurrence of gliomas, in the absence of well-defined hereditary multisystem disorders, is reported occasionally. We describe 17 families that have been afflicted with two or more gliomas but do not raise suspicion of other inheritable syndromes. The families were identified among 369 conse
To search for recurrent and specific genomic alterations in human hepatocellular carcinoma (HCC), we examined 18 cell lines by comparative genomic hybridization (CGH), a molecular cytogenetic approach that allows positional identification of gains and losses of DNA sequences of the entire tumor geno
## Abstract The genetic hallmark of retinoblastoma is mutation or deletion of the __RB1__ gene, whereas other genetic alterations that are also required are largely unknown. To screen for genomic imbalances on a genomewide level, we studied a series of 17 primary retinoblastomas by matrix‐based com