2020 Fiscal Year Final Research Report
Newly proposed high-grade CNS tumor entities
| Project/Area Number |
19K16579
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 49020:Human pathology-related
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| Research Institution | Gunma University |
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Principal Investigator |
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| Project Period (FY) |
2019-04-01 – 2021-03-31
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| Keywords | 脳腫瘍 / INI1/SMARCB1 / ependymoma |
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| Outline of Final Research Achievements |
1) We identified hitherto unclassifiable tumors, for which we propose the designation of central nervous system low-grade diffusely infiltrative tumors with INI1 deficiency (CNS LGDIT-INI1). CNS LGDIT-INI1 may be clinically indolent but have a high propensity to progress secondarily to agrresive rhabdoid tumors.
2) We reported hitherto histopathologically unclassifiable high-grade tumors, under the tentative label of ependymoma-like tumors with mesenchymal differentiation (ELTMD), harboring C11orf95-NCOA1/2 or -RELA fusion. t-distributed stochastic neighbor embedding analysis of DNA methylation data from cases with C11orf95-NCOA1/2 and a reference set of other CNS tumors revealed that these cases were clustered together and were distinct from all subgroups of ependymomas. Although ELTMD exhibited morphological and genetic associations with supratentorial ependymoma with C11orf95-RELA, they cannot be regarded as ependymoma.
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| Free Research Field |
脳腫瘍
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| Academic Significance and Societal Importance of the Research Achievements |
本研究で見出された新規腫瘍はいずれも希少なもので、診断困難で予後不良である。これらの腫瘍がWHO分類などの国際分類に記載され、広く認識されることにより、今後多数の症例が収集され、網羅的な分子遺伝学的検索を含めた多角的な解析が進むことにより、生物学的理解が深まり、疾患群としての輪郭が明確になっていくことが期待される。正確な診断と適切な臨床的マネージメント、更には今後の治療法の確立に繋がると考える。
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