Yao Yao, Guan Xiaojiao, Bao Guangyao, Liang Jie, Li Tian, Zhong Xinwen
Department of Thoracic Surgery, First Affiliated Hospital, China Medical University, Shenyang, China.
Department of Pathology, Second Affiliated Hospital, China Medical University, Shenyang, China.
Front Pharmacol. 2022 Aug 26;13:945038. doi: 10.3389/fphar.2022.945038. eCollection 2022.
Hepatoid adenocarcinoma of the lung (HAL) is an exceptionally rare malignant tumor with prominent hepatocellular carcinoma (HCC)-like characteristics in organs or tissues outside the liver, while there is no tumor in the liver. Most HAL cases have various degrees of serum alpha-fetoprotein (AFP) levels and exhibit a similar origin and clonal evolution process to HCC. We studied a case of HAL without elevating the AFP level by performing whole-exome sequencing (WES) and bioinformatics analyses after surgical resection. Our results showed mutations in two driver genes, NLRP3 and PBX1, and we identified HNRNPR, TP73, CFAP57, COL11A1, RUSC1, SLC6A9, DISC1, NBPF26, and OR10K1 as potential driver mutation genes in HAL. In addition, 76 significantly mutated genes (SMG) were identified after the statistical test of each mutation type on genes.
肺肝样腺癌（HAL）是一种极其罕见的恶性肿瘤，在肝脏以外的器官或组织中具有显著的肝细胞癌（HCC）样特征，而肝脏中无肿瘤。大多数HAL病例血清甲胎蛋白（AFP）水平有不同程度升高，并且与HCC具有相似的起源和克隆进化过程。我们对1例手术切除后未出现AFP水平升高的HAL病例进行了全外显子组测序（WES）和生物信息学分析。我们的结果显示两个驱动基因NLRP3和PBX1发生了突变，并且我们鉴定出HNRNPR、TP73、CFAP57、COL11A1、RUSC1、SLC6A9、DISC1、NBPF26和OR10K1为HAL中的潜在驱动突变基因。此外，在对各基因突变类型进行统计检验后，鉴定出76个显著突变基因（SMG）。
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