case_images: PMC6917606_01
case_images: Patient condition during the clinical course. (A) CT images before treatment. There is a mass in the right lower lung with multiple nodules in the right lower lung. (B) CT images after radio-frequency ablation treatment. The mass in the right lower lung is larger than before. (C) CT images after exacerbation, which showed right lower lung cancer with bilateral pleural effusion, and contralateral new lesions. (D) Histological finding. Tumor cells showed adenoid and trabecular structures, which grew around the blood vessels. And the cell atypia and nuclear fission was obvious (hematoxylin and eosin staining; magnification, x 10). (E) AFP level during the clinical course.
case_images: fonc-09-01360-g0001.jpg
case_images: PMC6917606_01_fonc-09-01360-g0001.jpg
case_images: F1
case_images: The chest computed tomography (CT) showed a mass in the right lower lung, multiple nodules in the right lower lung, and multiple enlarged lymph nodes in the mediastinum (Figure 1A). And the cell atypia and nuclear fission was obvious, resembling metastatic hepatocellular carcinoma (Figure 1D). CT showed larger tumor volumes compared to diagnosis (Figure 1B). At that time, the patient also developed a type I respiratory failure (pH 7.493, PCO2 33.5 mmHg, PO2 60.9 mmHg) and hepatic function damage (ALT 56 U/l, AST 79 U/l), besides, the repeated CT scan (Figure 1C) showed double pneumonia, bilateral pleural effusion and minimal pericardial effusion. Serum AFP level was 180,909 ng/ml (Figure 1E). Figure 2. Further GO analysis was performed, and results suggested that these variations were not significantly located in any GO terms (adjusted P-value > 0.1) (Supplementary Figure 1).
case_images: Circular genome diagrams of the patient. The outer circle (outside the green circle) represents the structure and scale of the chromosome. The middle circle indicates the somatic variation, in which, its Y-axis represents the allelic fraction (AF) value of each locus. 0 is the minimum and 1 is the maximum. The inner circle represents copy number variation (CNV). Orange color indicates deletion; green color indicates amplification, and blue color indicates neutral.
case_images: fonc-09-01360-g0002.jpg
case_images: PMC6917606_01_fonc-09-01360-g0002.jpg
case_images: F2
case_images: Figure 2. Further GO analysis was performed, and results suggested that these variations were not significantly located in any GO terms (adjusted P-value > 0.1) (Supplementary Figure 1).
case_images: Schematic and simplified representation of FAT1 gene. Columns with different colors indicate different domains within the FAT1 gene, and the mutation site of FAT1 gene in the patient is indicated by the lollipop with green color.
case_images: fonc-09-01360-g0003.jpg
case_images: PMC6917606_01_fonc-09-01360-g0003.jpg
case_images: F3
case_images: The variant c.3940T>A in FAT1 was found (Figure 3), as well as its copy number loss (Table 1).