PMC6126514_01
Chest CT scan.. Notes: (A) Lung window; (B) mediastinal window; (C) coronal window. There was an isolated solid nodule with a vacuole and pleural traction in the right upper lobe, indicated by red arrows.
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As shown in Figure 1, a chest CT scan revealed an isolated solid nodule with a vacuole and pleural traction signs in the right upper lobe, indicating a malignant nodule.
Histopathologic analysis.. Note: A diagnosis of lymphangioleiomyomatosis was made by pathologist with hematoxylin-eosin (H&E) staining and immunohistochemistry staining with different antibodies such as CD34, SMA, desmin, and HMB-45.
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As shown in Figure 2, a histopathologic examination showed a piece of dense fibrous connective tissue with some differently shaped aqueducts.
The next-generation sequencing maps for the mutations of three genes BARD1, BLM, and BRCA2. Note: All these gene mutations can be found from both sides of blood and tissues sequencing results and indicate germline mutations of these three genes.
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All these three mutations were germline mutations, since the mutations were found from both sides of blood and tissues sequencing analysis, as shown in Figure 3.