| Project/Area Number |
15K09633
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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 |
Pediatrics
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| Research Institution | Kanagawa Children's Medical Center (Clinical Research Institute) |
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Principal Investigator |
MUROYA Koji 地方独立行政法人神奈川県立病院機構神奈川県立こども医療センター(臨床研究所), 臨床研究所, 部長 (60239556)
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| Research Collaborator |
SATO Takeshi 慶應義塾大学, 医学部小児科, 助教
KIMURA Noriko 国立病院機構函館病院, 病理診断科, 部長
TAKEKOSHI Kazuhiro 筑波大学, 医学医療系, 教授
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2017: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2016: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 小児内分泌学 / 褐色細胞腫 / パラガングリオーマ / SDHB遺伝子 / VHL遺伝子 / GAPP分類 / VHL / SDHB |
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| Outline of Final Research Achievements |
We examined the clinical features of nine patients with pheochromocytoma/ paragangliomas (PCC/PGL). The age of onset was 6-15 years. Six cases had unilateral PCC, one case had bilateral PCC, and two cases had unilateral PGL. All patients were diagnosed with PCC/PGL because of nonspecific symptoms other than hypertension. Most cases lacked at least one of three typical symptoms (headaches, palpitations, and excessive sweating).
After obtaining informed consent, we extracted genomic DNA from peripheral blood leukocytes and excised tumors, and performed genetic analysis. We found VHL or SDHB mutations in the DNA from leukocytes and/or excised tumors in seven out of nine cases. Germline mutations were identified in five cases (three VHL and two SDHB mutations). Somatic VHL mutations of tumor tissues were identified in two of four cases without germline mutations. Somatic SDHB mutation (2nd hit) was identified in two of five cases with germline mutations.
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