小儿肝母细胞瘤（HBL）和肝细胞癌（HCC）是原发性肝恶性肿瘤，5年无事件生存率>80％和<30％，分别。在这些患者中,甲胎蛋白水平可以指导手术干预和监测疾病进展。尽管组织学和免疫组织化学染色支持诊断，基因检测可以阐明驱动发病机制。儿科HBL和HCC具有良好表征的分子特征，例如CTNNB1，TERT，和AXIN1改变Wnt/β-连环蛋白途径。大约8％的肝癌患者携带RPS6KA3变异，出现其他基因突变。在这里，我们报告了一个新的孤立致病性RPS6KA3变异体发现在一个6岁的男孩，其最终诊断是肝细胞恶性肿瘤，未指定。
Pediatric hepatoblastoma (HBL) and hepatocellular carcinoma (HCC) are primary liver malignant neoplasms with 5-year event-free survival of >80% and <30%, respectively. In these patients, α-fetoprotein levels can guide surgical intervention and monitor disease progression. Although histology and immunohistochemical stains support diagnosis, genetic testing can elucidate mechanisms that drive pathogenesis. Pediatric HBL and HCC harbor well-characterized molecular signatures such as alterations in CTNNB1, TERT, and AXIN1 that alter the Wnt/β-catenin pathway. Approximately 8% of individuals with HCC harbor RPS6KA3 variants that appear with other gene mutations. Herein, we report a novel solitary pathogenic RPS6KA3 variant finding in a 6-year-old boy whose final diagnosis was hepatocellular malignant neoplasm, not otherwise specified.
