Research Project
Grant-in-Aid for Young Scientists (B)
To elucidate the pathogenesis of intracranial germ cell tumors (iGCTs). We are analyzed a copy number analysis by multi-institutional study.Firstly, we analyzed DNA methylation profile in 83 iGCTs and 6 normal control samples using Infinium Human Methylation 450K BeadChip array and found 12p gain in 37.3% of iGCTs. Then, 58 iGCTs with clinicopathological information were analyzed for progression-free survival (PFS) and overall survival (OS). Both PFS and OS were significantly worse in iGCTs with 12p gain. Lastly, fluorescence in situ hybridization (FISH) study was carried out on 3 mixed iGCT cases. Different histological components in each mixed GCT shared the same 12p copy number status within each mixed GCT case.Gain of 12p can be a molecular marker to predict prognosis and an early event in tumorigenesis prior to histological differentiation in iGCTs.
頭蓋内胚細胞腫(iGCT)は、悪性度の異なる6つの組織型から構成され、複数の組織型が同一腫瘍内に混在することがある。本研究では、12番染色体短腕のgain (12p gain)は予後不良な組織型で高頻度にみられることが明らかとなり、iGCT患者の予後予測マーカーとして臨床応用可能と考えられる。また、12p gainに加え倍数性（染色体セットの数）の異常は、同一腫瘍内であれば組織型が異なっても共通することが明らかとなり、これらの異常がiGCTの腫瘍発生の比較的早期に発生するイベントであることが示唆され、病態解明の一助となる。
All 2020 2019 2018 2017
All Journal Article (4 results) (of which Peer Reviewed: 4 results, Open Access: 2 results) Presentation (6 results) (of which Int'l Joint Research: 2 results, Invited: 1 results)
International Journal of Infectious Diseases
Volume: 92 Pages: 171-174
10.1016/j.ijid.2020.01.004
Neuropathology and Applied Neurobiology
Volume: - Issue: 2 Pages: 111-124
10.1111/nan.12570
Cancer Science
Volume: 110 Issue: 4 Pages: 1480-1490
10.1111/cas.13969
Surgical Neurology International
Volume: 10 Pages: 256-256
10.25259/sni_413_2019
