Characteristics of primary liver cancer patients.
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Hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA) are primary liver cancers with overlapping histopathological features, making accurate diagnosis challenging. This study aimed to identify chromosomal abnormalities that could aid in differentiating these cancers using chromosome microarray analysis (CMA). We analyzed ten frozen tumor tissues each of HCC and CCA, identifying distinct patterns of chromosomal gains and losses. HCC exhibited gains in regions 1p36.32, 1q23.3-q24.1, 3q21.3, 4p16.1, 5q31.1, and 11p15.5, and losses in 2p15, 3p11.1-q11.1, 4q12, 5p12-q11.1, 7q11.23, 14q23.2, 17p11.2, 17p13.3, 22q12.1, 22q12.2-q12.3, and 22q13.2. In contrast, CCA showed gains in 5p13.2, 5p14.1, 8p12-p11.23, 8p22, and 19p13.2, and losses in 1q31.1, 1q42.13, 3p25.3, 6p12.1, 6p25.3, and 17q21.33. Heatmap analysis revealed 17 distinct chromosomal regions between the two groups including 2q14.2, 4p16.3, 5q32, 7p14.3, 7p22.1, 7q11.21, 7q11.23, 7q21.3, 7q22.1, 10q21.3, 18q23, 19p13.2, 19q13.2, 21q21.3, 21q22.13, 22q11.21, and 22q12.2. Among these 1p36.32, 19p13.2, and 19q13.2 emerged as potential biomarkers for differential diagnosis. These findings may aid in confirming cases with overlapping histopathological features contribute to the development of diagnostic tools and improved targeted therapies for HCC and CCA.
肝细胞癌（hepatocellular carcinoma, HCC）与胆管癌（cholangiocarcinoma, CCA）均为原发性肝癌，二者存在重叠的组织病理学特征，使得精准诊断颇具挑战。本研究旨在借助染色体微阵列分析（chromosome microarray analysis, CMA），识别可用于区分这两类癌症的染色体异常。我们对各10例HCC与CCA的冰冻肿瘤组织开展了分析，鉴定出二者各自独特的染色体拷贝数扩增与缺失模式。HCC的染色体扩增区域包括1p36.32、1q23.3-q24.1、3q21.3、4p16.1、5q31.1及11p15.5，缺失区域则为2p15、3p11.1-q11.1、4q12、5p12-q11.1、7q11.23、14q23.2、17p11.2、17p13.3、22q12.1、22q12.2-q12.3及22q13.2。与之相对，CCA的染色体扩增区域为5p13.2、5p14.1、8p12-p11.23、8p22及19p13.2，缺失区域则包括1q31.1、1q42.13、3p25.3、6p12.1、6p25.3及17q21.33。热图分析显示，两组间共存在17个差异染色体区域，分别为2q14.2、4p16.3、5q32、7p14.3、7p22.1、7q11.21、7q11.23、7q21.3、7q22.1、10q21.3、18q23、19p13.2、19q13.2、21q21.3、21q22.13、22q11.21及22q12.2。其中，1p36.32、19p13.2及19q13.2可作为用于二者鉴别诊断的潜在生物标志物。本研究结果可为确诊存在重叠组织病理学特征的病例提供辅助依据，有助于推动HCC与CCA诊断工具的开发及靶向治疗方案的优化。
