gatedew39
gatedew39
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Аткарск, Саратовская область, Россия
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In the past decade, there have been major advances in knowledge related to mesenchymal tumors, and new genetic alterations are being delineated. We report a mesenchymal spindle cell neoplasm harboring a novel gene fusion in an infant. Histopathologically, the neoplasm shared some features with sclerosing perineurioma, but immunohistochemically, EMA was negative, whereas GLUT1, NK1-C3, and BCOR were positive. Next-generation sequencing revealed a PCMTD1-pleomorphic adenoma gene 1 (PLAG1) fusion. PLAG1 contributes to the expression of a variety of genes implicated in regulating cell proliferation, and PCMTD1 has been related to the development of certain carcinomas. Recently, other soft tissue tumors in young children associated with PLAG1 fusion variants have been reported. Perhaps, mesenchymal neoplasms presenting PLAG1 fusions with different genes would confirm a specific group (PLAG mesenchymal tumours or "plagomas") in the near future.In the past decade, there have been major advances in knowledge related to mesenchymal tumors, and new genetic alterations are being delineated. We report a mesenchymal spindle cell neoplasm harboring a novel gene fusion in an infant. Histopathologically, the neoplasm shared some features with sclerosing perineurioma, but immunohistochemically, EMA was negative, whereas GLUT1, NK1-C3, and BCOR were positive. Next-generation sequencing revealed a PCMTD1-pleomorphic adenoma gene 1 (PLAG1) fusion. PLAG1 contributes to the expression of a variety of genes implicated in regulating cell proliferation, and PCMTD1 has been related to the development of certain carcinomas. Recently, other soft tissue tumors in young children associated with PLAG1 fusion variants have been reported. Perhaps, mesenchymal neoplasms presenting PLAG1 fusions with different genes would confirm a specific group (PLAG mesenchymal tumours or "plagomas") in the near future. Giant cell tumor of soft tissue (GCTST) is a rare neoplasm genetically unrelated but histopathologically indistinguishable to its osseous counterpart. Histologically, GCTST is characterized as a multinodular proliferation of bland histiocytoid mononuclear cells intermixed with osteoclast-like giant cells. GCTST most commonly presents as a soft-tissue mass located in the extremities of middle-aged adults. In this report, we describe a case of a dermal GCTST arising in the periocular region of a 3-year-old girl. This is the youngest patient diagnosed with GCTST reported in the literature and is also singular because of its anatomic location Only a handful of head and neck GCTSTs have been reported to date. Furthermore, GCTST most often presents as a superficial or deep soft-tissue mass and much less commonly as a dermal-based skin tumor, as was our case. On microscopic examination, the resected lesion demonstrated classical features including numerous osteoclast-like giant cells embedded in a background of mo also singular because of its anatomic location Only a handful of head and neck GCTSTs have been reported to date. Furthermore, GCTST most often presents as a superficial or deep soft-tissue mass and much less commonly as a dermal-based skin tumor, as was our case. On microscopic examination, the resected lesion demonstrated classical features including numerous osteoclast-like giant cells embedded in a background of mononuclear ovoid cells which displayed brisk mitotic activity and were surrounded by variable stromal hemorrhage. Tumor cells presented a vaguely fascicular arrangement. Immunohistochemical profile demonstrated positivity for smooth muscle actin and CD68 and negativity for desmin, myo-D1, S100, HMB-45, Melan-A, p16, and NKIC3. The unusual characteristics of this case emphasize the clinicopathologic heterogeneity of GCTST. Complete melanoma regression is an uncommon phenomenon involving a complex interplay of the tumor microenvironment and host immune response. We report a case of an 84-year-old woman with a history of colon and breast cancers who presented with a right forearm tumor, which was found to be a nodular melanoma; focal features of regression were noted in the biopsy. Approximately 6 weeks later, surgical resection of the site revealed no gross evidence of tumor, and histologic sections showed an extensive lymphoid infiltrate with prominent epidermotropism. Rare residual melanoma cells were present in the dermis, best visualized on immunohistochemical stains. T cells predominated in the infiltrate with an inverted CD4CD8 ratio at approximately 12. There was no appreciable loss of pan[FIGURE DASH]T-cell antigens. T-cell receptor beta and gamma gene rearrangements were performed by polymerase chain reaction and demonstrated clonality in each assay. Although a synchronous cutaneous T-cell lymphoma was considered, theed by polymerase chain reaction and demonstrated clonality in each assay. Although a synchronous cutaneous T-cell lymphoma was considered, the overall clinicopathologic features are more in line with an exaggerated host immune response leading to near complete regression of the tumor. Cutaneous intestinal either metaplasia or ectopia has mostly been described around intestinal stomas or in patients with Crohn disease. In this study, we described a unique case of cutaneous metaplasia on the elbow of a 25-year-old man who had a clinical history of epidermolysis bullosa simplex, but had no history of any gastrointestinal disease. The lesion had been clinically stable for 5 years. Histopathologically, the epithelium showed many columnar cells with mucinous cytoplasm, with no atypia or mitoses. The proliferation rate was low (7% by Ki67). Endocrinology inhibitor The metaplastic areas expressed epithelial membrane antigen, carcinoembryonic antigen, cytokeratin 7, MUC5AC, MUC2, and Cyclin-D1.Cutaneous intestinal either metaplasia or ectopia has mostly been described around intestinal stomas or in patients with Crohn disease. In this study, we described a unique case of cutaneous metaplasia on the elbow of a 25-year-old man who had a clinical history of epidermolysis bullosa simplex, but had no history of any gastrointestinal disease. The lesion had been clinically stable for 5 years. Histopathologically, the epithelium showed many columnar cells with mucinous cytoplasm, with no atypia or mitoses. The proliferation rate was low (7% by Ki67). The metaplastic areas expressed epithelial membrane antigen, carcinoembryonic antigen, cytokeratin 7, MUC5AC, MUC2, and Cyclin-D1.

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