Identification and characterization of novel fusion gene in salivary gland tumor

2017 Fiscal Year Final Research Report

• Project/Area Number: 16K21591
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Human pathology; Respiratory organ internal medicine
• Research Institution: Japanese Foundation for Cancer Research
• Principal Investigator: Togashi Yuki 公益財団法人がん研究会, がん研究所 分子標的病理プロジェクト, 研究員 (00648016)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Keywords: 融合遺伝子 / 唾液腺型腫瘍

Outline of Final Research Achievements

In the present study, we analyzed 100 cases of adenoid cystic carcinoma (ACC). FISH analyses were performed on all cases, while molecular analyses were also performed on 27 cases whose fresh frozen specimens were available. High levels of mRNA expression of MYB or MYBL1 were observed, and intriguingly the expression was accompanied by the corresponding genomic locus rearrangement in all the 27 cases. FISH assays using additional 73 cases, in which only formalin-fixed paraffin-embedded specimens were available, confirmed that either MYB or MYBL1 locus was rearranged in almost all cases of ACC (70/73). As a result, 97% (97/100) of ACC harbored MYB or MYBL1 locus rearrangement in the present study. In clinicopathological analyses, histological grade, primary tumor size, and lymph node metastasis were identified as independent poor prognostic factors. These results have been published as a peer-reviewed English-written paper.

Free Research Field

分子生物学