非典型的斯皮茨瘤 (斯皮茨黑色细胞瘤) 淋巴结转移和长期临床随访
Schaida Schirwani1,2,3, Jeff Theaker4, Lucy Side1
1Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
The American Journal of dermatopathology
|June 24, 2025
概括
具有淋巴结转移的非典型的斯皮茨瘤可以有良好的预后,如20年后没有复发的患者所证明的那样. 这凸显了对具有挑战性的皮肤病变进行准确诊断的重要性.
科学领域:
- 皮肤病理学 皮肤病理学
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 斯皮茨瘤由于其与黑色素瘤的组织学相似性,因此存在诊断挑战.
- 从黑色素瘤区分转移性非典型的斯皮茨瘤对于患者管理至关重要.
- 基因组和免疫组织化学分析有助于分类这些复杂的病变.
研究的目的:
- 报告儿科病人的非典型的斯皮茨瘤病例,淋巴结转移.
- 评估这个具有挑战性的病例的长期结果和诊断标记.
- 为了解非典型斯皮茨瘤的预后指标作出贡献.
主要方法:
- 对固定在甲中的,嵌入在甲中的组织进行了回顾性分析.
- 下一代测序和免疫组织化学.
- 对基因融合 (ALK,ROS),突变 (BRAF,TERT) 和家族黑色素瘤基因 (CDKN2A,CDK4,BAP1) 的测试.
主要成果:
- 这名患者在10岁时被诊断出患病,经过20年的随访后,没有出现复发.
- 对于PRAME,ALK和ROS的免疫组织化学反应是负的.
- 没有发现BRAF或TERT突变,也没有发现与家族黑色素瘤或儿童固体瘤相关的基因的致病变异.
结论:
- 与淋巴结转移的非典型的斯皮茨瘤可能具有很好的长期预后.
- 全面的分子和免疫组织化学测试对于准确的诊断至关重要.
- 这一案例强调了区分斯皮茨瘤与儿科患者黑色素瘤的重要性.
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