Key Laboratory of Biorheological Science and Technology, Ministry of Education, College of Bioengineering, Chongqing University, Chongqing, China.
Department of Bioengineering and Therapeutic Sciences and Liver Center, University of California, San Francisco, California.
Semin Liver Dis. 2021 Jan;41(1):28-41. doi: 10.1055/s-0040-1722645. Epub 2021 Jan 20.
Hepatoblastoma (HB) is the predominant primary liver tumor in children. While the prognosis is favorable when the tumor can be resected, the outcome is dismal for patients with progressed HB. Therefore, a better understanding of the molecular mechanisms responsible for HB is imperative for early detection and effective treatment. Sequencing analysis of human HB specimens unraveled the pivotal role of Wnt/β-catenin pathway activation in this disease. Nonetheless, β-catenin activation alone does not suffice to induce HB, implying the need for additional alterations. Perturbations of several pathways, including Hippo, Hedgehog, NRF2/KEAP1, HGF/c-Met, NK-1R/SP, and PI3K/AKT/mTOR cascades and aberrant activation of c-MYC, n-MYC, and EZH2 proto-oncogenes, have been identified in HB, although their role requires additional investigation. Here, we summarize the current knowledge on HB molecular pathogenesis, the relevance of the preclinical findings for the human disease, and the innovative therapeutic strategies that could be beneficial for the treatment of HB patients.
肝母细胞瘤 (HB) 是儿童中主要的原发性肝脏肿瘤。虽然当肿瘤可以切除时预后良好,但对于进展期 HB 的患者,预后仍然很差。因此,更好地了解导致 HB 的分子机制对于早期发现和有效治疗至关重要。对人类 HB 标本的测序分析揭示了 Wnt/β-catenin 通路激活在该疾病中的关键作用。然而,β-catenin 的单独激活不足以诱导 HB,这意味着需要其他改变。在 HB 中已经鉴定出几种途径的扰动,包括 Hippo、Hedgehog、NRF2/KEAP1、HGF/c-Met、NK-1R/SP 和 PI3K/AKT/mTOR 级联,以及 c-MYC、n-MYC 和 EZH2 原癌基因的异常激活,尽管它们的作用需要进一步研究。在这里,我们总结了 HB 分子发病机制的最新知识、临床前发现与人类疾病的相关性,以及可能有益于 HB 患者治疗的创新治疗策略。