Elucidation of gene and protein expression involved in the onset and progression of carotid body tumors

2022 Fiscal Year Final Research Report

• Project/Area Number: 19K18745
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 56050:Otorhinolaryngology-related
• Research Institution: Keio University
• Principal Investigator: Nakamura Shintaro 慶應義塾大学, 医学部(信濃町), 共同研究員 (30649976)
• Project Period (FY): 2019-04-01 – 2023-03-31
• Keywords: 頸動脈小体腫瘍 / CBT / SDH / 遺伝性腫瘍

Outline of Final Research Achievements

Carotid body tumor is known as a hereditary tumor, but its genetic characteristics in Japan have not been fully elucidated. In this study, four types of causative genes were identified by analyzing DNA collected from carotid body tumor patients, and they also detected DNA alterations in other cancer-associated genes.Furthermore, as a result of analyzing the protein expression of carotid body tumors, some tumors were caused by gene mutation, while other tumors showed the existence of other causes.
The clinical genetic background of carotid body tumor clarified by this research group may be applied to the development of new treatment methods through the development of future research.

Free Research Field

耳鼻咽喉科・頭頸部外科

Academic Significance and Societal Importance of the Research Achievements

本研究グループが明らかにした CBT の臨床遺伝学的背景は、本腫瘍の正確な診断と遺伝カウンセリングに活用できる。さらに 2022 年には、頭頸部に発生する傍神経節腫を対象として「日本頭頸部傍神経節腫研究会」を立ち上げた。CBT を始め、迷走神経傍神経節腫やグロムス腫瘍をふくめた頭頸部に発生する傍神経節腫全体に研究を拡大することで、腫瘍の発症や進展に関わるメカニズムの解明を目指す。これらの成果が将来には新規の治療法開発につながることを期待する。