2017 Fiscal Year Final Research Report
Analysis of genetic heterogeneity of medulloblastoma with Gorlin syndrome
| Project/Area Number |
15K19638
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Jikei University School of Medicine |
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Principal Investigator |
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Keywords | 髄芽腫 / ソニックヘッジホッグ / Gorlin症候群 / GNAS |
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| Outline of Final Research Achievements |
This study aimed to clarify the molecular basis of medulloblastoma development in Gorlin syndrome (GS). We examined genetic features associated with Sonic Hedgehog (SHH) signal mainly in two medulloblastoma with GS with immunohistochemistry and comprehensive gene analysis of tumors. As a result, we investigated two hits of PTCH1 in tumor cells, MYCN amplification associated with chromothripsis and loss of function mutation of GNAS, and they contributes greatly to tumorigenesis or malignant transformation in GS. Moreover, somatic mosaicism of maternal heterodisomy of GNAS may cause clinical phenotype of POH and GS.
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| Free Research Field |
小児腫瘍学
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