关键词: CRTC1 TRIM11 case report clear cell sarcoma melanocytoma

Mesh : Humans Skin Neoplasms / genetics pathology Gene Fusion Transcription Factors / genetics Melanocytes / pathology Biomarkers, Tumor Tripartite Motif Proteins / genetics Ubiquitin-Protein Ligases / genetics

来  源:   DOI:10.1111/cup.14287

Abstract:
Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion (CMCT) is a recently described entity with only 13 cases reported in the literature. Histopathologically, the neoplasm consists of atypical epithelioid to spindled cells that form a well-circumscribed nodule usually confined to the dermis and subcutis with cytological features including large vesicular nuclei with prominent nucleoli and abundant eosinophilic cytoplasm. Immunohistochemistry shows variable expressivity of melanocytic markers. Currently, there are limited data regarding long-term outcomes of this newly described entity. Most cases have done well, but there is one case reported with an adverse event. Hence, further studies are needed to accurately classify this tumor. Definitive diagnosis is made by laboratory evidence of CMCT. Herein, we report the first case of CMCT with epidermal involvement in the youngest patient known to be affected to date.
摘要:
具有CRTC1::TRIM11融合(CMCT)的皮肤黑素细胞肿瘤是最近描述的实体,文献中仅报道了13例。组织病理学,肿瘤由不典型的上皮样至纺锤状细胞组成,形成界限良好的结节,通常局限于真皮和皮下组织,细胞学特征包括大的囊泡核,明显的核仁和丰富的嗜酸性细胞质。免疫组织化学显示黑素细胞标记的可变表达。目前,关于这个新描述的实体的长期结果的数据有限.大多数情况下都做得很好,但有一例报告了不良事件.因此,需要进一步的研究来对这种肿瘤进行准确的分类。根据CMCT的实验室证据进行明确诊断。在这里,我们报道了第一例有表皮受累的CMCT病例,该病例是迄今为止已知受累的最年轻患者.
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