Enrichment of Immune-Related Genes in Aggressive Primary Breast Angiosarcoma: A Case Report

Figures

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  Fig. 1.. Imaging and pathological findings. a Magnetic resonance imaging showing a 10-cm round and rim-enhancing mass with central necrosis in the right breast. b The surgical specimen appears reddish-brown with hemorrhagic changes. c Hematoxylin-eosin staining shows angiosarcomatous proliferation of endothelial cells (magnification, ×20). d Immunohistochemical staining of the primary breast angiosarcoma (magnification, ×20). CD31 and CD34 are expressed robustly in malignant cells. Factor VIII is expressed partially, and the expression of Ki-67 is 30% in the cellular areas.

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  Fig. 2.. Imaging findings and FoundationOne® CDx results at the time of recurrence. a, b CT shows metastases in the lungs (a) and liver (b). c Magnetic resonance imaging shows brain metastases. d FoundationOne® CDx analysis shows a point mutation in PIK3CA, loss of TP53, and variants of unknown significance in eight other genes. e Timeline of the case.

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  Fig. 3.. RNA-seq analysis. a Expression levels of 10 genes identified by FoundationOne® CDx. b Four clusters are identified by k-means clustering using the iDEP software. The right panel shows the enriched pathways based on the KEGG database.

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  Fig. 4.. Tumor inflammation signature score, CIBERSORTx, and pathological findings. a The tumor inflammation signature (TIS) score is higher in the tumor tissue than in the normal breast tissue. b CIBERSORTx is used to computationally infer immune cell types enriched in the tumor tissue and the matched breast tissue. Macrophages, especially those with the M0 phenotype, are the predominant cell type in the tumor. c Hematoxylin-eosin and immunohistochemical staining of the tumor for CD45, CD68, and PD-L1 (22C3) (magnification, ×20).