Ioannis Panagopoulos1, Ludmila Gorunova2, Ingvild Lobmaier3, Marius Lund-Iversen3, Kristin Andersen2, Arild Holth3, Bodil Bjerkehagen3, 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: Epithelioid osteoblastoma is a rare benign tumor of the bone. Its pathogenesis is unknown and little is known regarding its genetic features. MATERIALS AND METHODS: Cytogenetic, RNA sequencing, reverse transcription polymerase chain reaction (RT-PCR), genomic PCR, and Sanger sequencing analyses were performed on an epithelioid osteoblastoma. RESULTS: G-banding analysis of short-term cultured tumor cells yielded a normal male karyotype in all examined metaphases. RNA sequencing detected a fusion of COL1A1 from 17q21 with FYN from 6q21. Both RT-PCR and genomic PCR together with Sanger sequencing verified the presence of a COL1A1-FYN fusion gene. In the COL1A1-FYN chimeric transcript, exon 43 of COL1A1 was fused to exon 2 of FYN. The genomic junction occurred in introns 43 and 1 of COL1A1 and FYN, respectively. CONCLUSION: A COL1A1-FYN fusion gene was found in an epithelioid osteoblastoma resulting in deregulation of FYN. Whether COL1A1-FYN represents a consistent genetic feature of epithelioid osteoblastomas, remains to be seen. Copyright
BACKGROUND/AIM: Epithelioid osteoblastoma is a rare benign tumor of the bone. Its pathogenesis is unknown and little is known regarding its genetic features. MATERIALS AND METHODS: Cytogenetic, RNA sequencing, reverse transcription polymerase chain reaction (RT-PCR), genomic PCR, and Sanger sequencing analyses were performed on an epithelioid osteoblastoma. RESULTS: G-banding analysis of short-term cultured tumor cells yielded a normal male karyotype in all examined metaphases. RNA sequencing detected a fusion of COL1A1 from 17q21 with FYN from 6q21. Both RT-PCR and genomic PCR together with Sanger sequencing verified the presence of a COL1A1-FYN fusion gene. In the COL1A1-FYN chimeric transcript, exon 43 of COL1A1 was fused to exon 2 of FYN. The genomic junction occurred in introns 43 and 1 of COL1A1 and FYN, respectively. CONCLUSION: A COL1A1-FYN fusion gene was found in an epithelioid osteoblastoma resulting in deregulation of FYN. Whether COL1A1-FYN represents a consistent genetic feature of epithelioid osteoblastomas, remains to be seen. Copyright
Authors: Andre M Oliveira; Antonio R Perez-Atayde; Paola Dal Cin; Mark C Gebhardt; Chang-Jie Chen; James R Neff; George D Demetri; Andrew E Rosenberg; Julia A Bridge; Jonathan A Fletcher Journal: Oncogene Date: 2005-05-12 Impact factor: 9.867
Authors: M P Simon; F Pedeutour; N Sirvent; J Grosgeorge; F Minoletti; J M Coindre; M J Terrier-Lacombe; N Mandahl; R D Craver; N Blin; G Sozzi; C Turc-Carel; K P O'Brien; D Kedra; I Fransson; C Guilbaud; J P Dumanski Journal: Nat Genet Date: 1997-01 Impact factor: 38.330
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