MITF Pathway-Activated Cutaneous Neoplasms.

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Tác giả: Steven D Billings, Thomas Brenn, Michael Michal

Ngôn ngữ: eng

Ký hiệu phân loại: 025.3177 Bibliographic analysis and control

Thông tin xuất bản: United States : Advances in anatomic pathology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 749387

Over the past few years, several fusion genes have been reported in dermal-based tumors, resulting in the activation of the microphthalmia (MITF) signalling pathway and a melanocytic phenotype by immunohistochemistry. The best-studied example of these tumors is clear cell sarcoma, which rarely may present as a primary dermal tumor. These tumors are characterized by EWSR1 gene rearrangements, typically with ATF1 and less commonly CREB1. More recently reported cutaneous tumors show gene fusions involving CRTC1::TRIM11, ACTIN::MITF, MITF::CREM, and MED15::ATF1. While the entities in this tumor group share many features, they show subtle distinguishing features, including clinical presentation, histopathologic features, immunophenotype, and outcome. The following overview provides a detailed discussion of these rare tumors with emphasis on differentiating features and differential diagnosis.
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