Dataset Information
Fusion of the COL1A1 and FYN Genes in Epithelioid Osteoblastoma.
Ontology highlight
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.
SUBMITTER: Panagopoulos I
PROVIDER: S-EPMC6727071 | biostudies-literature | 2019 Sep-Oct
REPOSITORIES: biostudies-literature
Publications
Fusion of the <i>COL1A1</i> and <i>FYN</i> Genes in Epithelioid Osteoblastoma.
Cancer genomics & proteomics 20190901 5
<h4>Background/aim</h4>Epithelioid osteoblastoma is a rare benign tumor of the bone. Its pathogenesis is unknown and little is known regarding its genetic features.<h4>Materials and methods</h4>Cytogenetic, RNA sequencing, reverse transcription polymerase chain reaction (RT-PCR), genomic PCR, and Sanger sequencing analyses were performed on an epithelioid osteoblastoma.<h4>Results</h4>G-banding analysis of short-term cultured tumor cells yielded a normal male karyotype in all examined metaphases ...[more]
