Fusion of the COL1A1 and FYN Genes in Epithelioid Osteoblastoma.

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.

authors

Panagopoulos I,Gorunova L,Lobmaier I,Lund-Iversen M,Andersen K,Holth A,Bjerkehagen B,Heim S

doi

10.21873/cgp.20141

subject

Has Abstract

pub_date

2019-09-01 00:00:00

pages

361-368

issue

5

eissn

1109-6535

issn

1790-6245

pii

16/5/361

journal_volume

16

pub_type

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