Molecular and clinicopathological study of mammary analogue secretory carcinoma (MASC)

2019 Fiscal Year Final Research Report

• Project/Area Number: 16K11467
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Morphological basic dentistry
• Research Institution: Aichi Gakuin University
• Principal Investigator: MIYABE Satoru 愛知学院大学, 歯学部, 講師 (40534582)
• Co-Investigator(Kenkyū-buntansha): 下郷 和雄 愛知学院大学, 歯学部, 非常勤講師 (00158966)
• Project Period (FY): 2016-10-21 – 2020-03-31
• Keywords: 臨床病理学 / 唾液腺腫瘍 / 分子病理学的解析

Outline of Final Research Achievements

MASC was a similar secretory carcinoma of the mammary gland, but it was classified as a new unit on WHO (4th ed), and now as secretory carcinoma (SC). 38 cases of secretory carcinoma were collected. It was reported that ETV6-NTRK3 was a molecular pathological feature of this tumor, but then RET, MET, MAML3 was used as the ETV6 partner gene. In addition, cases in which novel fusion genes such as VIM-RET and EGFR-SEPT14 are recognized have also been reported. ETV6-NTRK3 fusion gene was found in 35 out of 38 cases, and ETV6-RET in 1, ETV6-MET in 1, and ETV6-MAML3 in 1 case. We reported that the ETV6-X fusion was assumed including cases with strong fibrosis and necrosis in secretory carcinoma, and it was reported that these cases harbored ETV6-RET. Among the cases collected we also found that two cases of ETV6-MET and ETV6-MAML3 each other also showed strong fibrosis and necrosis, we reported these results at the 16th cytology workshop held by the Aichi Clinical Cytology Society 2019.

Free Research Field

口腔腫瘍の分子病理学的解析

Academic Significance and Societal Importance of the Research Achievements

本研究では、唾液腺分泌癌においてETV6-NTRK3以外の融合遺伝子の存在を収集症例においても明らかにした。研究目的の1つであった新たな関連遺伝子異常の検出が可能になったことから、「組織像が分泌癌であるがETV6遺伝子異常が検出されない症例」の存在が唾液腺腫瘍診断医を悩ます機会が減少すると考える。本研究は分泌癌から独立疾患単位として認められた分泌癌の診断精度の向上にもつながると考えられる。surrogate markerとしての遺伝子異常解析が、唾液腺分泌癌の診断精度を高めることを明らかにした点に学術的意義がある考える。