颈髓交界处无色素黑素细胞瘤。

IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY
Bradley Chaharyn, Stephen Yip, John A Maguire
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引用次数: 0

摘要

一名64岁女性,有1年的步态困难和右侧感觉障碍病史,发现左侧轴内颈髓外生性增强肿块。显微镜、免疫组织化学和超微结构检查结果显示为无色素黑素细胞瘤。具有靶向外显子组肿瘤面板的新一代测序鉴定出GNA11基因中具有功能意义的变体,从而确认了原发性无色素黑素细胞瘤的诊断。与黑色素瘤的关键区别可能是通过将所有这些使用不同技术的研究联系起来。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Amelanotic melanocytoma of the cervicomedullary junction.

A 64-year-old female with a 1-year history of gait difficulties and right-sided dysesthesias was found to have an intra-axial left-sided exophytic cervicomedullary enhancing mass. Microscopic, immunohistochemical, and ultrastructural findings demonstrated an amelanotic melanocytic neoplasm. Next-generation sequencing with a targeted exomic oncopanel identified a variant of functional significance in the GNA11 gene, thus confirming the diagnosis of a primary amelanotic melanocytoma. The crucial distinction from a melanoma was possible by correlating all of these studies that utilize different technologies.

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来源期刊
Clinical Neuropathology
Clinical Neuropathology 医学-病理学
CiteScore
1.60
自引率
0.00%
发文量
70
审稿时长
>12 weeks
期刊介绍: Clinical Neuropathology appears bi-monthly and publishes reviews and editorials, original papers, short communications and reports on recent advances in the entire field of clinical neuropathology. Papers on experimental neuropathologic subjects are accepted if they bear a close relationship to human diseases. Correspondence (letters to the editors) and current information including book announcements will also be published.
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