Comprehensive analysis of common gene mutations in head and neck esophageal duplication carcinoma

2023 Fiscal Year Final Research Report

• Project/Area Number: 20K18282
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 56050:Otorhinolaryngology-related
• Research Institution: Kobe University
• Principal Investigator: Shinomiya Hirotaka 神戸大学, 医学部附属病院国際がん医療・研究センター, 特命准教授 (00725385)
• Project Period (FY): 2020-04-01 – 2024-03-31
• Keywords: 咽頭癌 / 食道癌 / 遺伝子変異 / 飲酒 / 喫煙

Outline of Final Research Achievements

Hypopharyngeal and esophageal cancers are caused by alcohol consumption and smoking, and are prone to overlap with each other. Many Japanese people are weak in ALDH, an enzyme that breaks down acetaldehyde, and have a particularly high incidence of these diseases. Therefore, we hypothesized that both carcinomas might share a common genetic mutation. As a result, several gene mutations that are likely to be caused by alcohol consumption and smoking were found in both carcinomas, but no commonality of mutations was found between pharyngeal cancer and esophageal cancer in the same person.

Free Research Field

頭頸部癌

Academic Significance and Societal Importance of the Research Achievements

本研究により、咽頭癌、食道癌ともに飲酒や喫煙で発生しやすい遺伝子変異がみられることが改めて示された。ただ変異遺伝子の共通性は乏しく、同一患者の重複癌であってもそれらは別遺伝子の変異による孤発であり、予防、治療においては個別に対処する必要があることが示された。改めて飲酒、喫煙による疾患の予防が重要となることが示されたことは本研究における意義であると考える。