皮肤小蓝圆细胞瘤中细胞角蛋白和神经内分泌阳性——是否总是默克尔细胞癌?

IF 1.1 4区 医学 Q3 DERMATOLOGY
Simon Moubarak, John McAfee, Karen Fritchie, Jennifer S. Ko, Steven D. Billings, Shira Ronen
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引用次数: 0

摘要

我们报告了一例39岁的女性,最初被诊断为默克尔细胞癌(MCC),这是一种高度侵袭性的神经内分泌癌,由于细胞角蛋白和神经内分泌标志物表达的存在。肿瘤以真皮为基础,可见小而圆的蓝色细胞,染色质精细,细胞质稀少,有丝分裂象分散排列成片状,小的内聚巢,在硬化至水肿的间质内可见索状。提供的免疫组织化学染色显示全细胞角蛋白表达强烈,核周细胞角蛋白20呈点状染色,在明显的区域分布,主要在硬化间质内肿瘤细胞形成内聚巢和索的区域。神经内分泌标记物(包括突触素、INSM1和CD56)染色呈阳性,尽管是局部或区域性的。考虑到患者的年龄和不寻常的区域染色模式,进行了额外的检查,发现弥漫性膜性CD99染色和EWSR1::ERG融合。这些发现使我们将诊断修改为皮肤尤文氏肉瘤(ES)。MCC和皮肤ES的区别是至关重要的,因为它们的存活率和治疗方法不同。本病例强调了在遇到皮肤小圆形蓝细胞瘤时考虑其他诊断的重要性,特别是在年轻患者中,存在不寻常的组织学和免疫组织化学发现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Cytokeratin and Neuroendocrine Positivity in Cutaneous Small Blue Round Cell Tumor—Is It Always Merkel Cell Carcinoma?

Cytokeratin and Neuroendocrine Positivity in Cutaneous Small Blue Round Cell Tumor—Is It Always Merkel Cell Carcinoma?

We present a case of a 39-year-old woman initially diagnosed with Merkel cell carcinoma (MCC), a highly aggressive neuroendocrine carcinoma, due to the presence of cytokeratin and neuroendocrine marker expression. The tumor was dermal based, showing small round blue cells with fine chromatin, scant cytoplasm, and scattered mitotic figures arranged in sheets, small cohesive nests, and cords within sclerotic to edematous stroma. Provided immunohistochemical stains showed strong pancytokeratin expression coupled with perinuclear dot-like staining for cytokeratin 20 in a distinct regional distribution, predominantly in areas where the tumor cells formed cohesive nests and cords within sclerotic stroma. Stains for neuroendocrine markers, including synaptophysin, INSM1, and CD56, were positive, albeit focal or regional in the more cohesive areas. Given the patient's age and unusual regional staining patterns, additional testing was performed, which revealed diffuse membranous CD99 staining and EWSR1::ERG fusion. These findings led us to revise the diagnosis to cutaneous Ewing sarcoma (ES). The distinction between MCC and cutaneous ES is crucial due to their different survival rates and treatment approaches. This case underscored the importance of considering alternative diagnoses when encountering cutaneous small round blue cell tumors in the presence of unusual histologic and immunohistochemical findings, particularly in younger patients.

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来源期刊
CiteScore
3.20
自引率
5.90%
发文量
174
审稿时长
3-8 weeks
期刊介绍: Journal of Cutaneous Pathology publishes manuscripts broadly relevant to diseases of the skin and mucosae, with the aims of advancing scientific knowledge regarding dermatopathology and enhancing the communication between clinical practitioners and research scientists. Original scientific manuscripts on diagnostic and experimental cutaneous pathology are especially desirable. Timely, pertinent review articles also will be given high priority. Manuscripts based on light, fluorescence, and electron microscopy, histochemistry, immunology, molecular biology, and genetics, as well as allied sciences, are all welcome, provided their principal focus is on cutaneous pathology. Publication time will be kept as short as possible, ensuring that articles will be quickly available to all interested in this speciality.
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