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一名甲胎蛋白水平高的肺肝样腺癌患者的基因组图谱:病例报告

Genomic Profiles of a Patient of Pulmonary Hepatoid Adenocarcinoma With High AFP Level: A Case Report.

作者信息

Li Jinglin, Qi Huiwei, Xu Bingxin, Zhao Jing, Gao Hongjun, Ma Xiya, Liu Xiaoqing

机构信息

Department of Pulmonary Oncology, The Fifth Medical Centre, Chinese PLA General Hospital, Beijing, China.

Shanghai Tongshu Biotechnology Co., Ltd., Shanghai, China.

出版信息

Front Oncol. 2019 Dec 11;9:1360. doi: 10.3389/fonc.2019.01360. eCollection 2019.

Abstract

Hepatoid adenocarcinoma of lung (HAL) is a rare and aggressive tumor. The current study reported a new HAL case in the right lower lung with high serum α-fetoprotein (AFP) level in a 71-year-old male patient. After the confirmation of morphology and immunohistochemistry, the patient was diagnosed clinically with HAL and treated with radio-frequency ablation. However, the patient whose disease progressed eventually died 4 months after diagnosis. Whole genome sequencing analysis identified a driver gene mutation in the FAT atypical cadherin 1 gene () and the copy number loss. The tumor was microsatellite-stable and tumor mutation burden (TMB) was 1.69 mutations/Mb. PD-L1 expression was negative by IHC. Our finding provide further clues for the molecular basis of HAL and the efficacy of immunotherapy needs to be explored.

摘要

肺肝样腺癌(HAL)是一种罕见的侵袭性肿瘤。本研究报告了1例71岁男性右下肺HAL新病例,其血清甲胎蛋白(AFP)水平较高。经形态学和免疫组织化学确认后,该患者临床诊断为HAL并接受了射频消融治疗。然而,疾病进展的患者最终在诊断后4个月死亡。全基因组测序分析确定了FAT非典型钙黏蛋白1基因()中的驱动基因突变和拷贝数缺失。肿瘤为微卫星稳定型,肿瘤突变负荷(TMB)为1.69个突变/Mb。免疫组化显示PD-L1表达为阴性。我们的发现为HAL的分子基础提供了进一步线索,免疫治疗的疗效有待探索。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ed1/6917606/9c6fcb4798a4/fonc-09-01360-g0001.jpg

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