Genomic Analysis of Dysembryoplastic Neuroepithelial Tumor Spectrum Reveals a Diversity of Molecular Alterations Dysregulating the MAPK and PI3K/mTOR Pathways

生物 PDGFRA公司 PI3K/AKT/mTOR通路 癌症研究 MAPK/ERK通路 分子生物学 遗传学 激酶 信号转导 主旨 间质细胞
作者
Lea F. Surrey,Payal Jain,Bo Zhang,Joshua Straka,Xiaonan Zhao,Brian Harding,Adam Resnick,Phillip B. Storm,Anna Maria Buccoliero,Lorenzo Genitori,Marilyn M. Li,Angela J. Waanders,Mariarita Santi
出处
期刊:Journal of Neuropathology and Experimental Neurology [Oxford University Press]
卷期号:78 (12): 1100-1111 被引量:51
标识
DOI:10.1093/jnen/nlz101
摘要

Abstract Dysembryoplastic neuroepithelial tumors (DNT) lacking key diagnostic criteria are challenging to diagnose and sometimes fall into the broader category of mixed neuronal-glial tumors (MNGT) or the recently described polymorphous low-grade neuroepithelial tumor of the young (PLNTY). We examined 41 patients with DNT, MNGT, or PLNTY for histologic features, genomic findings, and progression-free survival (PFS). Genomic analysis included sequence and copy number variants and RNA-sequencing. Classic DNT (n = 26) was compared with those with diffuse growth without cortical nodules (n = 15), 6 of which exhibited impressive CD34 staining classifying them as PLNTY. Genomic analysis was complete in 33, with sequence alterations recurrently identified in BRAF, FGFR1, NF1, and PDGFRA, as well as 7 fusion genes involving FGFR2, FGFR1, NTRK2, and BRAF. Genetic alterations did not distinguish between MNGTs, DNTs, or PLNTYs; however, FGFR1 alterations were confined to DNT, and PLNTYs contained BRAF V600E or FGFR2 fusion genes. Analysis of PFS showed no significant difference by histology or genetic alteration; however, numbers were small and follow-up time short. Further molecular characterization of a PLNTY-related gene fusion, FGFR2-CTNNA3, demonstrated oncogenic potential via MAPK/PI3K/mTOR pathway activation. Overall, DNT-MNGT spectrum tumors exhibit diverse genomic alterations, with more than half (19/33) leading to MAPK/PI3K pathway alterations.
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