Raw Data for the article: Liver Transplantation for Unresectable Intrahepatic Cholangiocarcinoma: The Role of Sequencing Genetic Profiling

Intrahepatic cholangiocarcinoma (iCCA) is a rare and aggressive primary liver tumor, characterized by a range of different clinical manifestations and by increasing incidence and mortality rates even after curative treatment with radical resection. In recent years, growing attention has been devoted to this disease and some evidence supports liver transplantation (LT) as an appropriate treatment for intrahepatic cholangiocarcinoma; evolving work has also provided a framework for better understanding the genetic basis of this cancer. The aim of this study was to provide a clinical description of our series of patients complemented with Next-Generation Sequencing genomic profiling. From 1999 to 2021, 12 patients who underwent LT with either iCCA or a combined hepatocellular and cholangiocellular carcinoma (HCC-iCCA) were included in this study. Mutations were observed in gene activating signaling pathways known to be involved with iCCA tumorigenesis (KRAS/MAPK, P53, PI3K-Akt/mTOR, cAMP, WNT, epigenetic regulation and chromatin remodeling). Among several others, a strong association was observed between the Notch pathway and tumor size (point-biserial <em>rho_pb</em> = 0.93). Our results are suggestive of the benefit potentially derived from molecular analysis to improve our diagnostic capabilities and to devise new treatment protocols, and eventually ameliorate long-term survival of patients affected by iCCA or HCC-iCCA.肝内胆管癌（intrahepatic cholangiocarcinoma, iCCA）是一种罕见且侵袭性的原发性肝脏肿瘤，兼具多样的临床表现，即便接受根治性切除术等根治性治疗后，其发病率与死亡率仍呈上升趋势。近年来，学界对该疾病的关注度与日俱增，多项研究证据支持肝移植（liver transplantation, LT）可作为肝内胆管癌的适宜治疗方案；相关研究进展也为阐明该癌症的遗传基础提供了分析框架。本研究旨在对本中心纳入的患者队列展开临床特征描述，并辅以下一代测序（Next-Generation Sequencing）基因组谱分析。1999年至2021年间，本研究共纳入12例接受肝移植治疗的患者，其中分别罹患肝内胆管癌或肝细胞胆管癌混合型肝癌（hepatocellular and cholangiocellular carcinoma, HCC-iCCA）。研究在与肝内胆管癌肿瘤发生相关的已知基因激活信号通路中检测到突变，涵盖KRAS/MAPK、P53、PI3K-Akt/mTOR、cAMP、WNT通路以及表观遗传调控与染色质重塑相关通路。在多项关联分析中，研究观察到Notch通路与肿瘤体积间存在极强的相关性（点二列相关系数<em>ρ_pb</em> = 0.93）。本研究结果提示，分子分析可助力提升诊断能力、制定新型治疗方案，最终改善肝内胆管癌或肝细胞胆管癌混合型肝癌患者的长期生存预后。