case_images: PMC9891846_01
case_images: Clinicopathological features. a Thoracic image CT. The red asterisk indicates the tumor in the left pulmonary artery. b Additional thoracic image CT. The red arrows indicate the tumors. c CT image of the lower lung. The red asterisk indicates the tumor in the left lung. d The resected tumor and the left lung. The yellow dashed circle indicates the tumor in the left pulmonary artery. e Tumors in the left pulmonary artery. f H&E staining of the tumor. Immunohistochemistry images of vimentin (g), beta-catenin (h), smooth muscle alpha (i), and Ki-67 (j). k Thoracic CT after surgery. CT image of the brain metastasis (l) and the right hip joint (m).
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case_images: F1
case_images: Chest computed tomography (CT) indicated a defect in the left pulmonary artery and a lung tumor (Fig. 1a-c). In January, 200X + 1, the left pulmonary artery and the left lung were completely resected (Fig. 1d, e). Histopathological examination found that the resected tumor was vimentin (+), beta-catenin (+), CD99 (+), MDM2 (+), CDKN2A (+), CDK4 (+), PDGFR2 (+), desmin (partially +), smooth muscle actin (-), CD34 (-), Factor VIII (-), c-Kit (-), EMA (-), S-100 (-), cytokeratin AE1/AE3 (-), and the Ki-67 index was 35% (Fig. 1f-j). The right lung artery was reconstructed with a graft (Fig. 1k). At that time, CT examination showed that the tumor remained in the mediastinum around the aortic arch, and multiple metastases were found in the right lung, liver, brain, pelvic cavity, right hip joint, left quadriceps, and abdominal wall (Fig. 1l, m). Fig. 1; for all online suppl. material, see www.karger.com/doi/10.1159/000528682).
case_images: Family tree of the pedigree. Each closed quarter of rectangle and quadrant indicates cancers in the figure. The proband (P) tested for bearing of the germline variant PMS2 (c.1399G>A, pV467I) is indicated as E+.
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case_images: F2
case_images: She also had a family history of multiple types of cancer (Fig. 2). Fig. 2).
case_images: Immunohistochemistry of MMR proteins and PD-L1 in the tumor. a MSH2. b MSH6. c PMS2. d MLH1. e PD-L1.
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case_images: F3
case_images: PMS2 and MLH1 proteins were decreased (Fig. 3c, d). PD-L1 was also positive by clone 28-8 antibody (Abcam, Cambridge, UK) (Fig. 3e).
case_images: CT images pre- and posttreatment with pembrolizumab. a Lung metastasis. b Abdominal wall metastasis. c Liver metastasis. d Disseminated tumor in the pelvic cavity. The blue arrow indicates the shrunken tumors. The red arrow indicates the enlarged tumors.
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case_images: F4
case_images: The metastases in the lung and pelvic cavity had shrunk, but the metastases in the liver and abdominal wall had enlarged (Fig. 4a-d).