| Project/Area Number |
25460671
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Laboratory medicine
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| Research Institution | University of Tsukuba |
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Principal Investigator |
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| 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)
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| Co-Investigator(Renkei-kenkyūsha) |
Takekoshi Kazuhiro 筑波大学, 医学医療系, 教授 (40261804)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| 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)
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| 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 |
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| 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.
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