Pediatric combined hepatocellular-cholangiocarcinoma (cHCC-CC) with neuroendocrine features: distinguishing genetic alterations detected by chromosomal microarray.
Pediatric combined hepatocellular-cholangiocarcinoma (cHCC-CC) with neuroendocrine features: distinguishing genetic alterations detected by chromosomal microarray.
复制标题
DOI：
10.1186/s13000-023-01305-z
复制
发表时间：
2023-02-13
影响因子：
2.6
通讯作者：
中科院分区：
文献类型：
--
作者：
肝脏肿瘤表现出肝细胞，胆管癌，神经内分泌功能是非常罕见的，只有5例在文献中报道。我们提出了一个不寻常的情况下，合并肝细胞胆管癌（cHCC-CC）与神经内分泌功能的儿科患者。一个16岁的病人因腹痛和肝右叶一个21.0 cm的肿块延伸到肝左叶而就诊。组织学显示一个低分化的肿瘤，具有实性、管状腺和微囊结构。免疫组织化学结果为阴性的肝脏标志物，阳性的胆道分化标志物，神经内分泌分化阳性。在几个诊断不同的机构对肿瘤进行了审查。单核苷酸多态性（SNP）染色体微阵列（CMA）显示在肝细胞样区域和胆管癌样区域的染色体6 q和13 q内存在大的缺失，在胆管癌样区域存在额外的大缺失，支持起源于肝细胞癌。最终诊断为具有神经内分泌特征的cHCC-CC。cHCC-CC的诊断主要依赖于组织形态学，根据2018年国际共识小组对cHCC-CC的命名。本病例的这些发现支持了这些病变的病理分类基于分子数据，这可以更好地指导治疗。cHCC-CC的进一步分类及其临床病理学相关性的确定将需要更多的观察者间一致性和这些病变的持续分子特征分析。
Liver tumors exhibiting hepatocellular, cholangiocarcinoma, and neuroendocrine features are extremely rare, with only five cases reported in the literature. We present an unusual case of a combined hepatocellular-cholangiocarcinoma (cHCC-CC) with neuroendocrine features in a pediatric patient. A 16-year-old presented with abdominal pain and a 21.0 cm mass in the right hepatic lobe with extension into the left lobe. Histology showed a poorly differentiated tumor with a solid, tubuloglandular, and microcystic architecture. Immunohistochemistry results were negative for hepatic markers, positive for markers of biliary differentiation, and positive for neuroendocrine differentiation. The neoplasm was reviewed at several institutions with differing diagnoses. Single nucleotide polymorphism (SNP) chromosomal microarray (CMA) showed large deletions within chromosomes 6q and 13q in both the hepatocellular-like areas and the cholangiocarcinoma-like areas, with additional large deletions in the cholangiocarcinoma-like areas, supporting origin from hepatocellular carcinoma. The final diagnosis was a cHCC-CC with neuroendocrine features. Diagnosis of cHCC-CCs relies predominately on histomorphology, as per the 2018 International Consensus Group on the nomenclature of cHCC-CC. These findings in this case support that the pathological classification of these lesions be based on molecular data, which could better direct treatment. Further classification of cHCC-CCs and determination of their clinicopathological relevance will require more interobserver consistency and continued molecular profiling of these lesions.
影响因子：
2.8
作者：
Dimopoulos YP;Winslow ER;He AR;Ozdemirli M
通讯作者：
Ozdemirli M