Analysis of the gene mutations of hereditary carotid body tumors and the establishment of a novel classification using diagnostic imaging

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K15623
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Otorhinolaryngology
• Research Institution: Iwate Medical University
• Principal Investigator: Saito Daisuke 岩手医科大学, 医学部, 助教 (40722715)
• Co-Investigator(Kenkyū-buntansha): 志賀 清人 岩手医科大学, 医学部, 教授 (10187338)
• Research Collaborator: TAKEKOSHI Kazuhiro 筑波大学, 医学医療系・スポーツ医学, 教授
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 頸動脈小体腫瘍 / 傍神経節腫 / 分類 / 全国調査 / 遺伝子変異 / HPPS

Outline of Final Research Achievements

We organized “Japan carotid body tumor research group (JCBTRG)” and carried out a survey called “Multi-institutional survey of carotid body tumor in Japan (JCBTRG-1)”. We analyzed 150 patients whose clinical data were obtained from their hospitals and published the article (Oncol Lett 15:3383, 2018). In the next phase, we have been performing the survey called “Multi-institutional survey of the gene mutations of the patients with carotid body tumor in Japan (JCBTRG-2) and analyzing their gene mutations mainly in SDH gene family. Our preliminary results suggested that more than half of the patients with carotid body tumor have SDHB or SDHD germ line mutations. We have established a novel classification of the carotid body tumor which can predict the application of the surgery based on the pre-operative angiography of the patients.

Free Research Field

頭頸部外科学