Development of highly precise diagnostic markers for pediatric neoplasms
Project/Area Number |
15K10931
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatric surgery
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Research Institution | Kanagawa Children's Medical Center (Clinical Research Institute) |
Principal Investigator |
Tanaka Mio 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, 医長 (60565232)
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Co-Investigator(Kenkyū-buntansha) |
永原 則之 日本医科大学, 医学部, 准教授 (10208043)
片山 映 日本医科大学, 医学部, 助教 (10333113)
田中 祐吉 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, 臨床研究所長 (50420691)
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Research Collaborator |
GOTO hiroaki
KITAGAWA norihiko
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Project Period (FY) |
2015-10-21 – 2019-03-31
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Project Status |
Completed (Fiscal Year 2018)
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Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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Keywords | 小児腫瘍 / 診断マーカー / 病理診断 / 融合遺伝子 / 免疫組織学的検査 / 免疫組織学的 / 腎明細胞肉腫 / alpha-internexin / ALK融合遺伝子 / 炎症性筋線維芽細胞性腫瘍 / 先天性嚢胞性腺腫様奇形 / FLIT / internexin alpha |
Outline of Final Research Achievements |
The purpose of this study was to develop highly precise diagnostic markers of pediatric neoplasms, especially renal and pulmonary tumors, for pathological diagnosis. For renal tumor, we have detected alpha-internexin (INA) as a candidate for diagnostic marker of clear cell sarcoma of the kidney (CCSK), which is one of common malignant pediatric renal tumor. In this study, we showed high sensitivity and specificity of INA as a marker for CCSK among other pediatric renal and extrarenal tumors. BCOR-ITD is recently reported gene abnormality which is often detected in CCSKs. We achieved detection of BCOR-ITD from formalin-fixed-paraffin-embedded tissue of CCSK, some of which were stored over 40 years. For pulmonary tumors, we detected ALK-related fusion gene from several infantile pulmonary lesions, and established new subtype of inflammatory myofibroblastic tumor occurring specifically in neonatal/ infantile lung.
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Academic Significance and Societal Importance of the Research Achievements |
Alpha-internexinは市販の抗体を用いた免疫染色が可能であり、しばしば病理診断が困難である腎明細胞肉腫に対して簡便で特異性の高いマーカーが見出されたことの意義は大きい。また、BCOR-ITDを相当長期の保存期間を経た検体からも検出可能であることを示し得たことは、同腫瘍のアーカイブを用いた検討の可能性を広げたという点で重要な意義がある。乳児型肺炎症性筋線維芽細胞性腫瘍の組織所見と遺伝子異常を明らかにしたことは、診断不能とされていた新生児・乳児の肺病変の一部が同症と診断されることで適切な治療法の選択がなされるという点で意義がある。
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Report
(5 results)
Research Products
(7 results)
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[Journal Article] The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear cell sarcoma of the kidney.2016
Author(s)
Gooskens SL, Kenny C, Lazaro A, O'Meara E, van Tinteren H, Spreafico F, Vujanic G, Leuschner I, Coulomb-L'Hermine A, Perotti D, de Camargo B, Bergeron C, Acha Garcia T, Tanaka M, Pieters R, Pritchard-Jones K, Graf N, van den Heuvel-Eibrink MM, O'Sullivan MJ.
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Journal Title
Genes Chromosomes Cancer.
Volume: 55
Issue: 2
Pages: 143-147
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Presentation] 甲状腺濾胞癌の発生を契機に生殖細胞のDICER1遺伝子異常を同定した2症例2015
Author(s)
吉田 美沙, 村岡 枝里香, 関 正史, 吉田 健一, 浜之上 聡, 武山 絵里子, 田中 水緒, 後藤 裕明, 宮野 悟, 小川 誠司, 滝田 順子, 田中 祐吉
Organizer
第57回日本小児血液・がん学会学術集会
Place of Presentation
甲府富士屋ホテル、甲府市
Year and Date
2015-11-27
Related Report
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