Genetic testing of Pheochromocytoma in Japan

2015 Fiscal Year Final Research Report

• Project/Area Number: 25460671
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Laboratory medicine
• Research Institution: University 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)
• 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
• Keywords: 褐色細胞腫 / 遺伝子診断 / ＳＤＨＢ

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.

Free Research Field

代謝内分泌