An aggressive Ewing sarcoma associated with a new variant translocation, t(4;11;22)(q25;q24;q12), hyperdiploid karyotype, and tetrasomy 8

Abstract

Ewing sarcoma (ES) shares a recurrent t(11;22)(q24;q12) that is encountered in about 85% of cases [ [1] Sandberg A.A. Bridge J.A. Updates on cytogenetics and molecular genetics of bone and soft tissue tumors: Ewing sarcoma and peripheral primitive neuroectodermal tumors. Cancer Genet Cytogenet. 2000; 123: 1-26 Abstract Full Text Full Text PDF PubMed Scopus (127) Google Scholar ]. This translocation generates the fusion transcript EWS/FLI-1, which is detected in up to 90% of cases. A minority of ES cases have simple variant translocations in which the EWS gene from chromosome 22 is fused to another member of the ETS gene family (ERG 21q22, ETV1 7p22, E1AF 17q21, and FEV 2q33). In few instances, complex translocations involving a third chromosome have been reported. Secondary chromosomal abnormalities frequently include gains of chromosomes 8 and 12 and t(1;16). While the impact of the fusion transcript type on prognosis remains disputable, additional changes are probable prognostic factors for tumor response and clinical outcome [ [1] Sandberg A.A. Bridge J.A. Updates on cytogenetics and molecular genetics of bone and soft tissue tumors: Ewing sarcoma and peripheral primitive neuroectodermal tumors. Cancer Genet Cytogenet. 2000; 123: 1-26 Abstract Full Text Full Text PDF PubMed Scopus (127) Google Scholar ]. Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: leiomyosarcomaCancer Genetics and CytogeneticsVol. 161Issue 1PreviewLeiomyosarcomas (LMS) are malignant mesenchymal tumors with features of smooth muscle differentiation. LMS develop principally in adults between 50 and 60 years of age, are more common in women than men and occur in a range of body sites, i.e., the uterus, retroperitoneum, gastrointestinal tract, skin, superficial soft tissues, and deep compartments of the extremities [1,2]. LMS constitute about 10% of all soft tissue tumors [3]. Full-Text PDF ErratumCancer Genetics and CytogeneticsVol. 167Issue 1PreviewAbdelmoula NB, Perot C, Taillemite JL, Van den Akker J, Portnoi MF, Tourniaire B, Pakker JL, Josset P, Boccon-Gibod L, Peters M, Delattre O. An aggressive Ewing sarcoma associated with a new variant translocation, t(4;11;22)(q25;q24;q12), hyperdiploid karyotype, and tetrasomy 8. Cancer Genet Cytogenet 2005;163:186–188. Full-Text PDF