Hepatoblastomas (HB) are embryonal tumors with quiet genomes diagnosed mostly in children under 3 years of age and often cured by surgical resection and chemotherapy. However, a subset of HBs behave aggressively, displaying characteristic histologic features and higher genomic instability. Hepatocellular neoplasm-not otherwise specified (HCN-NOS) is a provisional diagnostic category for tumors exhibiting either intermediate or a combination of both HB and hepatocellular carcinoma (HCC) histological features. In this study, we characterized an HCN-NOS diagnosed in a 3-year-old patient presenting with a liver mass, in which both HB and HCC histological components were amendable to macro-dissection and molecular profiling. The spectrum of mutations, copy number changes, mRNA, and protein expression profiles within these 2 histologically distinct tumor areas demonstrate molecular heterogeneity and suggest intratumoral clonal evolution of this hepatocellular CTNNB1-mutant lesion.

中文翻译：

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未另行指定的肝细胞肿瘤 (HCN-NOS) 的分子分析显示了肝母细胞瘤和 HCC 样成分的独特分子特征。

肝母细胞瘤 (HB) 是一种具有安静基因组的胚胎性肿瘤，主要在 3 岁以下儿童中诊断，通常通过手术切除和化疗治愈。然而，HBs 的一个子集表现出攻击性，表现出典型的组织学特征和更高的基因组不稳定性。未另行指定的肝细胞肿瘤 (HCN-NOS) 是一种临时诊断类别，用于表现出 HB 和肝细胞癌 (HCC) 组织学特征的中间特征或组合特征的肿瘤。在这项研究中，我们对一名 3 岁患者诊断出的 HCN-NOS 进行了表征，该患者出现肝脏肿块，其中 HB 和 HCC 组织学成分均可通过宏观解剖和分子分析进行修正。这两个组织学上不同的肿瘤区域内的突变谱、拷贝数变化、mRNA 和蛋白质表达谱证明了分子异质性，并表明了这种肝细胞 CTNNB1 突变病变的瘤内克隆进化。