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Ploidy and karyotype complexity are powerful prognostic indicators in the Ewing's sarcoma family of tumors: A study by the United Kingdom cancer cytogenetics and the children's cancer and leukaemia group

Lookup NU author(s): Dr Michael Griffiths, Dr Nicholas Bown

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Abstract

Ewing's sarcoma family tumors (ESFT) are characterized by the presence of EWSR1-ETS fusion genes. Secondary chromosome changes are frequently described, although their clinical significance is not clear. In this study, we have collected and reviewed abnormal karyotypes from 88 patients with primary ESFT and a rearrangement of 22q12. Secondary changes were identified in 80% (70/88) of tumors at diagnosis. Multivariate analysis showed a worse overall and relapse free survival (RFS) for those with a complex karyotype (overall survival, P = 0.005; RFS, P = 0.04), independent of metastatic disease. Univariate survival analysis showed that a chromosome number above 50 or a complex karyotype was associated with a worse overall survival (>50 chromosomes, P = 0.05; complex karyotype, P = 0.04). There was no association between type of cytogenetic abnormality and the presence of metastatic disease at diagnosis. Univariate and multivariate survival analysis of a small subgroup with trisomy 20 indicated that trisomy 20 was associated with a worse overall and RFS. There was no difference in outcome associated with other recurrent trisomies (2, 5, 7, 8, or 12) or the common recurrent secondary structural rearrangements (deletions of 1p36, 9p12, 17p13, and 16q, and gain of 1q), although numbers were small. These data demonstrate the continued value of cytogenetics as a genome-wide screen in ESFT and illustrates the potential importance of secondary chromosome changes for stratification of patients for risk. Specifically, karyotype complexity appears to be a powerful predictor of prognosis, and the presence of trisomy 20 may be a marker of a more aggressive subset of this group. © 2007 Wiley-Liss, Inc.

Publication metadata

Author(s): Roberts P, Burchill SA, Brownhill S, Cullinane CJ, Johnston C, Griffiths MJ, McMullan DJ, Bown NP, Morris SP, Lewis IJ

Publication type: Article

Publication status: Published

Journal: Genes, Chromosomes and Cancer

Year: 2008

Volume: 47

Issue: 3

Pages: 207-220

ISSN (print): 1045-2257

ISSN (electronic): 1098-2264

Publisher: John Wiley & Sons, Inc.

URL: http://dx.doi.org/10.1002/gcc.20523

DOI: 10.1002/gcc.20523

PubMed id: 18064647

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