Fusion of the and Genes in Epithelioid Osteoblastoma

Overview

Journal Cancer Genomics Proteomics

Specialties Biochemistry
Genetics
Oncology

Date 2019 Aug 31

PMID 31467230

Citations 5

Authors

Ioannis Panagopoulos

Ludmila Gorunova

Ingvild Lobmaier

Marius Lund-Iversen

Kristin Andersen

Arild Holth

Bodil Bjerkehagen

Sverre Heim

Affiliations

Soon will be listed here.

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.

Citing Articles

Methylation and copy number profiling: emerging tools to differentiate osteoblastoma from malignant mimics?.

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LncRNA FBXL19-AS1 promotes proliferation and metastasis of cervical cancer through upregulating COL1A1 as a sponge of miR-193a-5p.

Huang X, Shi H, Shi X, Jiang X J Biol Res (Thessalon). 2021; 28(1):20.

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Integrated WGCNA and PPI Network to Screen Hub Genes Signatures for Infantile Hemangioma.

Xu M, Ouyang T, Lv K, Ma X Front Genet. 2021; 11:614195.

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Fusion of the Gene With in a Hemangioma Carrying a t(X;15)(q22;q26) Chromosomal Translocation.

Panagopoulos I, Gorunova L, Lobmaier I, Andersen K, Lund-Iversen M, Micci F Cancer Genomics Proteomics. 2020; 17(4):383-390.

PMID: 32576583 PMC: 7367601. DOI: 10.21873/cgp.20197.

and Fusion Genes in Osteoblastoma.

Panagopoulos I, Gorunova L, Lobmaier I, Andersen K, Kostolomov I, Lund-Iversen M Cancer Genomics Proteomics. 2020; 17(2):161-168.

PMID: 32108038 PMC: 7078835. DOI: 10.21873/cgp.20176.

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