Whole Exome Sequencing of Non-alpha-fetoprotein Elevated Lung Hepatoid Adenocarcinoma

Hepatoid adenocarcinoma (HAC) is an exceptional rare malignant tumor with prominent Hepatic-like characteristics in organs or tissue outside the liver. Most reported HAC of the lung (HAL) cases have varying degrees of serum alpha-fetoprotein (AFP) level and exhibit a similar origin and clonal evolution process to hepatocellular carcinoma. We report a case of HAL without elevating AFP level, moreover performed 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, OR10K1 as potential driver mutation genes in HAL. In addition, 76 genes were differentially expressed in HAL tumor tissue versus normal tissue.