Genetic mutation and their clinicopathological significance in salivary gland adenoid cystic carcinoma

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K15647
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Human pathology
• Research Institution: Nagoya City University
• Principal Investigator: Tsuda Kana 名古屋市立大学, 医薬学総合研究院(医学), 助教 (60790756)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 唾液腺悪性腫瘍 / 唾液腺腺様嚢胞癌 / FISH法

Outline of Final Research Achievements

Adenoid cystic carcinoma (AdCC) is one of the most common salivary gland malignancies. AdCC patients show a variable clinical course, but the long-term prognosis is poor. We showed that in AdCC cases, MYC protein overexpression correlated with the present of MYB-NFIB fusion gene and could be a risk factor for distant metastases and tumor recurrence. Therefore, we examined the amplification of MYC gene by FISH in AdCC cases with MYC protein overexpression, but no significant correlation was observed.
We also collected about 200 AdCCs in multi-institutional joint research. We performed a next-generation sequencer analysis in salivary duct carcinomas (SDCs), which many gene mutations have been reported. As a preliminary study before performing a comprehensive analysis of AdCCs, we examined SDC cases using a next-generation sequencer. As a result, gene mutations such as ERBB4, NPM1, TP53, and RET were found in 20 to 30% of SDC cases.

Free Research Field

腫瘍病理学

Academic Significance and Societal Importance of the Research Achievements

唾液腺悪性腫瘍は比較的稀な疾患であり、多彩な病理像を示すため、病理診断においても苦慮する症例が多く存在する。発生頻度は稀であるが、予後不良である悪性腫瘍も多い。その中で最も代表的な組織型の一つである唾液腺腺様嚢胞癌(AdCC)は診断に苦慮するのみならず、明確な治療法も確立されていない。本研究によってAdCCを含めた唾液腺悪性腫瘍における臨床病理学的意義や新たな治療法の確立につながる可能性も考えられる。