Ioannis Panagopoulos1, Ludmila Gorunova2, Ingvild Lobmaier3, Kristin Andersen2, Ilyá Kostolomov4, Marius Lund-Iversen3, Bodil Bjerkehagen3,5,6, Sverre Heim2,5. 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. Section for Applied Informatics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. 5. Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway. 6. Institute of Oral Biology, Faculty of Dentistry, University of Oslo, Oslo, Norway.
Abstract
BACKGROUND/AIM: Osteoblastoma is a rare benign tumor of the bones in which recurrent rearrangements of FOS have been found. Our aim was to investigate two osteoblastomas for possible genetic aberrations. MATERIALS AND METHODS: Cytogenetic, RNA sequencing, and molecular analyses were performed. RESULTS: A FOS-ANKH transcript was found in the first tumor, whereas a FOS-RUNX2 was detected in the second. Exon 4 of FOS fused with sequences either from intron 1 of ANKH or intron 5 of RUNX2. The fusion events introduced a stop codon and removed sequences involved in the regulation of FOS. CONCLUSION: Rearrangements and fusions of FOS show similarities with those of HMGA2 (a feature of leiomyomas and lipomas) and CSF1 (tenosynovial giant cell tumors). The replacement of a 3'-untranslated region, controlling the gene's expression, by a new sequence is thus a common pathogenetic theme shared by FOS, HMGA2, and CSF1 in many benign connective tissue tumors. Copyright
BACKGROUND/AIM: Osteoblastoma is a rare benign tumor of the bones in which recurrent rearrangements of FOS have been found. Our aim was to investigate two osteoblastomas for possible genetic aberrations. MATERIALS AND METHODS: Cytogenetic, RNA sequencing, and molecular analyses were performed. RESULTS: A FOS-ANKH transcript was found in the first tumor, whereas a FOS-RUNX2 was detected in the second. Exon 4 of FOS fused with sequences either from intron 1 of ANKH or intron 5 of RUNX2. The fusion events introduced a stop codon and removed sequences involved in the regulation of FOS. CONCLUSION: Rearrangements and fusions of FOS show similarities with those of HMGA2 (a feature of leiomyomas and lipomas) and CSF1 (tenosynovial giant cell tumors). The replacement of a 3'-untranslated region, controlling the gene's expression, by a new sequence is thus a common pathogenetic theme shared by FOS, HMGA2, and CSF1 in many benign connective tissue tumors. Copyright
Authors: Baptiste Ameline; Michaela Nathrath; Karolin H Nord; Felix Haglund de Flon; Judith V M G Bovée; Andreas H Krieg; Sylvia Höller; Jürgen Hench; Daniel Baumhoer Journal: Mod Pathol Date: 2022-03-28 Impact factor: 8.209