Research Papers:

Karyotyping and analysis of GNAS locus in intramuscular myxomas

Ioannis Panagopoulos _, Ludmila Gorunova, Ingvild Lobmaier, Bodil Bjerkehagen and Sverre Heim

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Oncotarget. 2017; 8:22086-22094. https://doi.org/10.18632/oncotarget.14986

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Ioannis Panagopoulos1,2, Ludmila Gorunova1,2, Ingvild Lobmaier3, Bodil Bjerkehagen3, Sverre Heim1,2,4

1Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway

2Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway

3Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway

4Faculty of Medicine, University of Oslo, Oslo, Norway

Correspondence to:

Ioannis Panagopoulos, email: [email protected]

Keywords: intramuscular myxomas, cytogenetics, karyotyping, GNAS

Received: December 08, 2016     Accepted: January 24, 2017     Published: February 01, 2017


Intramuscular myxoma is a benign soft tissue tumor about which very limited genetic information exists. We studied 68 intramuscular myxomas by means of chromosome banding analysis finding abnormal karyotypes in 21 of them. The most clearly nonrandom involvement was of chromosome 8 which was found gained in seven tumors (+8 was the sole change in five myxomas) and structurally rearranged in another two. Since mutation of the gene GNAS (20q13) has been implicated in the pathogenesis of both solitary and hereditary multiple myxomas, we assessed the transcription and mutation status of this gene in five tumors from which we had suitable RNA. All five intramuscular myxomas expressed biallelic transcripts. The mutated GNAS allele found in one tumor was also biallelically transcribed. In none of the five myxomas were maternally expressed transcripts detected. Collectively, the data suggest that intramuscular myxomas have acquired genetic abnormalities that often include chromosome 8 changes but may also involve alterations of GNAS. To what extent these aberrations are pathogenetically important, remains uncertain.

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