Masami Kanawa,Eiso Hiyama,Kasumi Kawashima,Keiko Hiyama,Kyoko Ikeda,Nagisa Morihara,Sho Kurihara,Takahiro Fukazawa,Yuka Ueda, Gene expression profiling in hepatoblastoma cases of the Japanese Study Group for Pediatric Liver Tumors-2 (JPLT-2) trial European Journal of Molecular Cancer 2018 http://dx.doi.org/10.31487/j.EJMC.2018.01.003 https://www.sciencerepository.org/gene-expression-profiling-in-hepatoblastoma-cases-of-the-japanese-study-group-for-pediatric-liver-tumors-2-jplt-2-trial_EJMC-2018-1-103 Abstract: Background: Over the past two decades, significant improvements in the outcomes of children diagnosed with hepatoblastoma (HBL) have resulted from developments in diagnostic methods and treatments. However, the outcomes of some cases remain unfavorable, and others suffer from late complications caused by treatment. Procedure: We elucidated the genetic profile of HBLs to identify biological markers for diagnosis and to determine the grade of malignancy. RNA samples extracted from 53 specimens of fresh-frozen HBL and corresponding noncancerous liver tissues were used for gene expression profiling and pathway analysis. Results: In the comparison between HBL and noncancerous liver tissues, genes involved in several transcription pathways including glypican 3 and Wnt signaling pathway members were upregulated, whereas cytochrome p450 family genes were downregulated. The analyses of high-risk (metastatic) HBL and HBL progression or recurrence cases revealed upregulated expression of histone cluster genes and upregulation of RXR activators molecular signaling. Clustering analysis of the tumor samples revealed three distinct groups among the HBL cases. Conclusion: Aberrant expression of genes involved in tissue differentiation pathways may be related to the development of HBL, and such genes, including AFP, PGC, SPINK1, and NQO1, may be putative therapeutic targets for HBL progression Keywords: Hepatoblastoma, Microarray, gene expression, clustering, malignancy grade