肝母细胞瘤建模：通过单细胞测序（批量）鉴定不同的肿瘤细胞群和关键的遗传机制

Hepatoblastoma (HB) is the most common primary liver malignancy of childhood. However, molecular investigations of the disease are limited and effective treatment options are lacking. The use of patient derived xenografts (PDX) to study biology and treatment strategies of HB has proven to be a useful tool. There is currently a knowledge gap in the investigation of key driver cells of HB in PDX models. Key driving pathways of HB tumor including WNT, AP-1, Hedgehog, Notch and MAPK pathways and genes such as GPC3, DLK1 and HMGA2 have been identified in primary HB tumor and PDX as integral players in HB tumor growth. Cell clusters have been defined with distinct roles in tumor development. Cell populations with initiating, angiogenic (endothelial), maintenance, and progression signatures have been identified in one HB patient tumor and corresponding PDX tumor. Critical pathways combined with identification of distinct cell populations within HB tumor will allow for investigation of novel treatment strategies in vitro and in vivo.

肝母细胞瘤（Hepatoblastoma, HB）是儿童最常见的原发性肝脏恶性肿瘤。然而，针对该疾病的分子生物学研究仍存在诸多局限，且缺乏有效的治疗方案。利用患者来源异种移植瘤（Patient Derived Xenografts, PDX）研究HB的生物学特性与治疗策略，已被证实为极具价值的研究手段。目前，在PDX模型中探究HB关键驱动细胞的研究仍存在认知空白。研究人员已在原发性HB肿瘤及PDX模型中鉴定出HB肿瘤的核心驱动通路，包括WNT、AP-1、Hedgehog、Notch及MAPK通路，以及GPC3、DLK1、HMGA2等基因，上述分子均为HB肿瘤生长的关键调控因子。学界已定义了在肿瘤发生发展中发挥不同功能的细胞簇，并在1例HB患者的原发肿瘤及其对应的PDX移植瘤中，鉴定出具有肿瘤起始、血管生成（内皮）、维持及进展特征的细胞群体。将关键通路与HB肿瘤内特异性细胞群的鉴定结果相结合，将为体外及体内层面的新型治疗策略研究提供可行路径。

搜集汇总

背景与挑战

背景概述

该数据集聚焦于肝母细胞瘤（HB）研究，通过单细胞测序（批量）技术，利用患者来源的异种移植（PDX）模型，鉴定了HB肿瘤中的关键遗传机制（如WNT、AP-1等通路和GPC3等基因）和不同功能的细胞群（如起始细胞、血管生成细胞等）。数据集包含29个样本，总数据量84.71 GB，旨在为开发新的体外和体内治疗策略提供基础。