fig1

Kabuki syndrome and rare tumors in a young girl carrying a frameshift <i><i>KMT2D</i></i> mutation

Figure 1. (A) Hematoxylin-eosin (H&E) stained section of the pancreatic endocrine neoplasm. Immunostaining revealed a strong expression of insulin; (B) chromogranin (C) and CD56 (D). The section was also strongly positive for Ki-67 and synaptophysin staining (not shown). The morphology indicates a well-differentiated neuroendocrine tumor and a mitotic count of 20 per 10 high-power fields and a Ki-67 index (%) of 20 % indicates a tumor of intermediate-grade (G2). (A, H&E, original magnification × 200; B-D, immunohistochemistry, original magnification × 200); (E) H&E stained section of the metastasis-free liver tissue showing fibrous bands encircling small islets of hepatic tissue; (F) Numerous small bile ducts were scattered in the fibrous tissue well evidenced by cytokeratin 7 immunostaining. We also observed a diffuse, pronounced, dilation and congestion of the portal veins (E, H&E, original magnification ×100; F, immunohistochemistry, original magnification × 100); (G) Liver tissue with a cyst entirely lined with ciliated columnar epithelium, showing pseudo-stratification, surrounded by smooth muscle (G, H&E, original magnification ×400); (H) H&E x25 Leaf-like processes with a moderately cellular stroma phyllodes tumour; (I) H&E x200 cellular spindle cell stroma. No evidence of mitoses or necrosis in low-grade phyllodes tumor.

Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
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