Chromosome aberrations and HEY1-NCOA2 fusion gene in a mesenchymal chondrosarcoma

Panagopoulos,Ioannis; Gorunova,Ludmila; Bjerkehagen,Bodil; Boye,Kjetil; Heim,Sverre

doi:10.3892/or.2014.3180

Chromosome aberrations and HEY1-NCOA2 fusion gene in a mesenchymal chondrosarcoma

Authors:
- Ioannis Panagopoulos
- Ludmila Gorunova
- Bodil Bjerkehagen
- Kjetil Boye
- Sverre Heim
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Affiliations: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway, Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway, Department of Oncology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
Published online on: May 15, 2014 https://doi.org/10.3892/or.2014.3180
Pages: 40-44
Copyright: © Panagopoulos et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].

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Abstract

Mesenchymal chondrosarcomas are fast-growing tumors that account for 2-10% of primary chondrosarcomas. Cytogenetic information is restricted to 12 cases that did not show a specific aberration pattern. Recently, two fusion genes were described in mesenchymal chondrosarcomas: a recurrent HEY1-NCOA2 found in tumors that had not been cytogenetically characterized and an IRF2BP2-CDX1 found in a tumor carrying a t(1;5)(q42;q32) translocation as the sole chromosomal abnormality. Here, we present the cytogenetic and molecular genetic analysis of a mesenchymal chondrosarcoma in which the patient had two histologically indistinguishable tumor lesions, one in the neck and one in the thigh. An abnormal clone with the G-banding karyotype 46,XX,add(6)(q23),add(8)(p23),del(10)(p11),+12,-15[6] was found in the neck tumor whereas a normal karyotype, 46,XX, was found in the tumor of the thigh. RT-PCR and Sanger sequencing showed that exon 4 of HEY1 was fused to exon 13 of NCOA2 in the sample from the thigh lesion; we did not have spare material to perform a similar analysis of the neck tumor. Examining the published karyotypes we observed numerical or structural aberrations of chromosome 8 in the majority of the karyotyped mesenchymal chondrosarcomas. Chromosome 8 was also structurally affected in the present study. The pathogenetic mechanisms behind this nonrandom involvement are unknown, but the presence on 8q of two genes, HEY1 and NCOA2, now known to be involved in mesenchymal chondrosarcoma tumorigenesis is, of course, suggestive.

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