2015 Fiscal Year Final Research Report
Association between development of Langerhans cell histiocytosis and polymorphism in the Toll-like receptor pathways
| Project/Area Number |
24791084
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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 | Jichi Medical University |
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Principal Investigator |
Hayase Tomomi 自治医科大学, 医学部, 助教 (50433587)
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| Project Period (FY) |
2012-04-01 – 2016-03-31
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| Keywords | ランゲルハンス細胞組織球症 / トル様受容体 / BRAF / MAP2K1 / 全エクソンシークエンス解析 / リアルタイムPCR |
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| Outline of Final Research Achievements |
Langerhans cell histiocytosis (LCH) is characterized by proliferation of immature dendritic cells and infiltration of inflammatory cells. We analyzed expression of toll-like receptors (TLRs) in LCH cells and found that TLR1, 2, 6, 7, 8 was over expressed. Whole exome sequencing (WES) was performed on paired samples of LCH lesions and normal tissues obtained form 5 patients. Mutation specific PCR for BRAF was performed in 16 LCH samples. No mutation of TLRs was found but previously reported MAP2K1 mutation was found in 3 of 5 patients by WES. BRAFV600E mutation was found in 6 of 16 LCH samples by PCR.
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| Free Research Field |
小児科学
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