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Detection of novel fusion genes by next-generation sequencing-based targeted RNA sequencing analysis in adenoid cystic carcinoma of head and neck.
- Source :
-
Oral surgery, oral medicine, oral pathology and oral radiology [Oral Surg Oral Med Oral Pathol Oral Radiol] 2021 Oct; Vol. 132 (4), pp. 426-433. Date of Electronic Publication: 2021 Mar 31. - Publication Year :
- 2021
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Abstract
- Objective: Adenoid cystic carcinoma (AdCC) is a rare, indolent salivary gland tumor that is reported to be driven by fusion genes. However, MYB/MYBL1-NFIB fusions have been detected in <60% of all AdCC cases and the oncogenic driver mutations in approximately 40% of AdCC remain unknown. Our aim was to identify novel gene fusions in AdCC.<br />Study Design: We investigated 20 AdCC cases using a targeted RNA sequencing panel to identify gene fusions and performed quantitative real-time reverse transcription polymerase chain reaction to assess MYB, MYBL1, and NFIB expression levels.<br />Results: A total of 36 fusion transcripts in 15 cases were detected and validated by Sanger sequencing. The MYB-NFIB and MYBL1-NFIB fusion genes were detected in 9 and 3 cases, respectively, in a mutually exclusive manner. Furthermore, novel gene fusions, namely, NFIB-EPB41L2, MAP7-NFIB, NFIB-MCMDC2, MYBL1-C8orf34, C8orf34-NFIB, and NFIB-CASC20, were identified. Among them, NFIB-EPB41L2 and NFIB-MCMDC2 are thought to activate MYB and MYBL1 expression, respectively, through the insertion of a genomic segment in proximity to MYB and MYBL1 genes, respectively.<br />Conclusion: Six novel gene fusions other than MYB/MYBL1-NFIB were identified. The detection of novel fusion genes and investigation of the molecular mechanism will contribute to the development of novel molecular targeted therapies for this disease.<br /> (Copyright © 2021 Elsevier Inc. All rights reserved.)
Details
- Language :
- English
- ISSN :
- 2212-4411
- Volume :
- 132
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Oral surgery, oral medicine, oral pathology and oral radiology
- Publication Type :
- Academic Journal
- Accession number :
- 34413003
- Full Text :
- https://doi.org/10.1016/j.oooo.2021.03.020