Ioannis Panagopoulos1, Ludmila Gorunova2, Kristin Andersen2, Ingvild Lobmaier3, Marius Lund-Iversen3, Francesca Micci2, Sverre Heim2,4. 1. Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, the Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway ioannis.panagopoulos@rr-research.no. 2. Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, the Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. 3. Department of Pathology, Oslo University Hospital, Oslo, Norway. 4. Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Abstract
BACKGROUND/AIM: Aneurysmal bone cyst is a benign bone lesion with a strong tendency to recur. The rearrangement of chromosome band 17p13/USP6 gene is now considered a characteristic genetic feature of aneurysmal bone cyst, with t(16;17)(q22;p13)/CDH11-USP6 as the most frequent chromosomal aberration/fusion gene. We report a novel variant translocation leading to a new fusion gene in an aneurysmal bone cyst. MATERIALS AND METHODS: Genetic analyses were performed on an aneurysmal bone cyst found in the tibia of a child. RESULTS: G-banding chromosome analysis yielded the karyotype 46,XX,t(12;17)(q21;p13)[5]/46,XX[2]. FISH analysis with a USP6 break-apart probe showed rearrangement of USP6. RNA sequencing detected LUM-USP6 and USP6-LUM fusion transcripts which were subsequently verified by RT-PCR/Sanger sequencing. The two genes exchanged 5'- non-coding exons. Thus, promoter swapping between USP6 and LUM had taken place. CONCLUSION: We report a novel t(12;17)(q21;p13) chromosome translocation which gave rise to a LUM-USP6 fusion in an aneurysmal bone cyst. Copyright
BACKGROUND/AIM: Aneurysmal bone cyst is a benign bone lesion with a strong tendency to recur. The rearrangement of chromosome band 17p13/USP6 gene is now considered a characteristic genetic feature of aneurysmal bone cyst, with t(16;17)(q22;p13)/CDH11-USP6 as the most frequent chromosomal aberration/fusion gene. We report a novel variant translocation leading to a new fusion gene in an aneurysmal bone cyst. MATERIALS AND METHODS: Genetic analyses were performed on an aneurysmal bone cyst found in the tibia of a child. RESULTS: G-banding chromosome analysis yielded the karyotype 46,XX,t(12;17)(q21;p13)[5]/46,XX[2]. FISH analysis with a USP6 break-apart probe showed rearrangement of USP6. RNA sequencing detected LUM-USP6 and USP6-LUM fusion transcripts which were subsequently verified by RT-PCR/Sanger sequencing. The two genes exchanged 5'- non-coding exons. Thus, promoter swapping between USP6 and LUM had taken place. CONCLUSION: We report a novel t(12;17)(q21;p13) chromosome translocation which gave rise to a LUM-USP6 fusion in an aneurysmal bone cyst. Copyright
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