| description |
Hepatoblastoma (HB) is the most common primary liver cancer in children; however, few pre-treatment HB tumors have been molecularly profiled. Consequently, there are no validated prognostic or therapeutic biomarkers available for HB patients. We report on the analysis of molecular profiles obtained from 88 clinically-annotated HB tumors. This analysis points to three distinct risk-stratifying molecular HB subtypes—termed low, intermediate and high risk—that are characterized by differential activation of hepatic progenitor cell markers and metabolic pathways. High-risk tumors are characterized by high NFE2L2 activity, high LIN28B, HMGA2, SALL4 and AFP expression, low let-7 expression and HNF1A activity, and high coordinated expression of oncofetal proteins and stem cell markers. Testing of a 35 HB validation set suggests that immunohistochemical analysis using antibodies targeting these genes may be useful for screening diagnostic specimens and providing therapeutic guidance for the treatment of HB patients. This dataset includes WES of 34 HBs. |