Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA, 94305, USA.
Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA, 94305, USA.
Nat Commun. 2024 Nov 20;15(1):10007. doi: 10.1038/s41467-024-53802-4.
Cancers evolve not only through the acquisition and clonal transmission of somatic mutations but also by epigenetic mechanisms that modify cell phenotype. Here, we use histology-guided and spatial transcriptomics to characterize hepatoblastoma, a childhood liver cancer that exhibits significant histologic and proliferative heterogeneity despite clonal activating mutations in the Wnt/β-catenin pathway. Highly proliferative regions with embryonal histology show high expression of Wnt target genes, the embryonic biliary transcription factor SOX4, and striking focal expression of the growth factor FGF19. In patient-derived tumoroids with constitutive Wnt activation, FGF19 is a required growth signal for FGF19-negative cells. Indeed, some tumoroids contain subsets of cells that endogenously express FGF19, downstream of Wnt/β-catenin and SOX4. Thus, the embryonic biliary lineage program cooperates with stabilized nuclear β-catenin, inducing FGF19 as a paracrine growth signal that promotes tumor cell proliferation, together with active Wnt signaling. In this pediatric cancer presumed to originate from a multipotent hepatobiliary progenitor, lineage-driven heterogeneity results in a functional growth advantage, a non-genetic mechanism whereby developmental lineage programs influence tumor evolution.
癌症不仅通过体细胞突变的获得和克隆传播而进化,还通过表观遗传机制来改变细胞表型。在这里,我们使用组织学指导和空间转录组学来描述肝母细胞瘤,这是一种儿童期肝癌,尽管在 Wnt/β-连环蛋白途径中存在克隆激活突变,但表现出显著的组织学和增殖异质性。具有胚胎组织学的高增殖区域表现出 Wnt 靶基因、胚胎胆管转录因子 SOX4 的高表达,以及生长因子 FGF19 的显著局灶性表达。在具有组成型 Wnt 激活的患者来源的肿瘤球中,FGF19 是 FGF19 阴性细胞的必需生长信号。事实上,一些肿瘤球包含一些细胞亚群,它们在 Wnt/β-连环蛋白和 SOX4 的下游,内源性表达 FGF19。因此,胚胎胆管谱系程序与稳定的核 β-连环蛋白合作,诱导 FGF19 作为旁分泌生长信号,促进肿瘤细胞增殖,同时保持活跃的 Wnt 信号。在这种被认为起源于多能肝前体细胞的儿科癌症中,谱系驱动的异质性导致了功能上的生长优势,这是一种非遗传机制,即发育谱系程序影响肿瘤的进化。