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Genetic testing of Pheochromocytoma in Japan

Research Project

Project/Area Number 25460671
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Laboratory medicine
Research InstitutionUniversity of Tsukuba

Principal Investigator

Kawakami Yasushi  筑波大学, 医学医療系, 教授 (70234028)

Co-Investigator(Kenkyū-buntansha) Shimano Hitoshi  筑波大学, 医学医療系, 教授 (20251241)
竹越 一博  筑波大学, 医学医療系, 教授 (40261804)
Co-Investigator(Renkei-kenkyūsha) Takekoshi Kazuhiro  筑波大学, 医学医療系, 教授 (40261804)
Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2014: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2013: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Keywords褐色細胞腫 / 遺伝子診断 / SDHB / SDHB / 悪性褐色細胞腫 / コンパニオン診断法 / MAX
Outline of Final Research Achievements

1) Since 2007, we have carried out genetic testing in 226 cases in Japan. In 178 index cases, we found 65 cases whose genetic mutations are positive and summarized herein : SDHB 31 cases, SDHD 7 cases, VHL 14 cases, RET 4 cases, TMEM 127 4 cases, MAX 5 cases. Consequently, notably high degree (65/178=36.5%) of patients carry genetic mutation.
2) In the present study, analysis of blood taken from 41 cases of malignant pheochromocytomas in Japanese subjects led to the identification of 17 SDHB mutations(17/41=41.5%). It should be noted that theses SDHB mutations were detected mainly from abdominal paraganglioma-derived malignant cases(29/31=93.5%).Conclusion and perspective: Also in Japan, 1) remarkable high degree of patients (around 40%) carry genetic mutation and 2)SDHB is highly involved in malignant pheochromocytomas. Thus, genetic testing is prerequisite for diagnosis and treatment of pheochromocytomas/ paragangliomas in our country.

Report

(4 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • 2013 Research-status Report

URL: 

Published: 2014-07-25   Modified: 2019-07-29  

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