TY - JOUR T1 - Recurrent Fusion of the Genes for High-mobility Group AT-hook 2 (<em>HMGA2</em>) and Nuclear Receptor Co-repressor 2 (<em>NCOR2</em>) in Osteoclastic Giant Cell-rich Tumors of Bone JF - Cancer Genomics - Proteomics JO - Cancer Genomics Proteomics SP - 163 LP - 177 DO - 10.21873/cgp.20312 VL - 19 IS - 2 AU - IOANNIS PANAGOPOULOS AU - KRISTIN ANDERSEN AU - LUDMILA GORUNOVA AU - MARIUS LUND-IVERSEN AU - INGVILD LOBMAIER AU - SVERRE HEIM Y1 - 2022/03/01 UR - http://cgp.iiarjournals.org/content/19/2/163.abstract N2 - Background/Aim: Chimeras involving the high-mobility group AT-hook 2 gene (HMGA2 in 12q14.3) have been found in lipomas and other benign mesenchymal tumors. We report here a fusion of HMGA2 with the nuclear receptor co-repressor 2 gene (NCOR2 in 12q24.31) repeatedly found in tumors of bone and the first cytogenetic investigation of this fusion. Materials and Methods: Six osteoclastic giant cell-rich tumors were investigated using G-banding, RNA sequencing, reverse transcription polymerase chain reaction, Sanger sequencing, and fluorescence in situ hybridization. Results: Four tumors had structural chromosomal aberrations of 12q. The pathogenic variant c.103_104GG&gt;AT (p.Gly35Met) in the H3.3 histone A gene was found in a tumor without 12q aberration. In-frame HMGA2–NCOR2 fusion transcripts were found in all tumors. In two cases, the presence of an HMGA2–NCOR2 fusion gene was confirmed by FISH on metaphase spreads. Conclusion: Our results demonstrate that a subset of osteoclastic giant cell-rich tumors of bone are characterized by an HMGA2–NCOR2 fusion gene. ER -