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具有MAP2K1激活突变的良性和中等等级黑色细胞瘤的临床,形态和分子特征
Mónica Fumero-Velázquez1, Michael Hagstrom1, Soneet Dhillon1
1Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL.
The American journal of surgical pathology
|September 29, 2023
概括
激活MAP2K1突变在良性和中间的黑色细胞瘤中发现,通常类似于斯皮茨瘤. 这些突变,特别是内部删除,与黑色素瘤突变不同,影响瘤形态和临床表现.
科学领域:
- 皮肤病理学 皮肤病理学
- 在瘤学瘤学.
- 分子遗传学 分子遗传学
背景情况:
- 激活MAP2K1的突变在具有spitzoid特征的黑色细胞瘤中被确定.
- 这些突变可以发生在良性和中等等级的瘤中,需要与其他尖型瘤区分.
研究的目的:
- 分析具有激活MAP2K1突变的16种良性和中等等级黑色细胞瘤的临床,遗传学和遗传特征.
- 为了比较这些MAP2K1突变瘤与携带不同突变的斯皮茨瘤 (斯皮茨融合,HRAS).
- 为了研究MAP2K1-突变良性/中级瘤与黑色素瘤的突变模式.
主要方法:
- 对16例具有激活MAP2K1突变的黑色细胞瘤病例的回顾性分析.
- 收集和分析了临床,组织病理和遗传数据.
- 与Spitz瘤和带有MAP2K1突变的黑色素瘤进行比较分析.
主要成果:
- 青的诊断包括斯皮茨瘤 (8/16),非典型的斯皮茨瘤 (6/16) 和深透的瘤 (2/16).
- 常见的建筑模式包括带有纤维形成的斑块状或形/结状的形巢.
- 在老年人中出现的MAP2K1突变瘤,表现出更多的表,并且与真正的斯皮茨瘤相比,其线粒细胞数量较低.
- 在良性/中等病例中,框架内删除是主要的突变类型,而在黑色素瘤中,误解突变更为常见.
结论:
- 具有MAP2K1突变的良性和中等等级的黑色细胞瘤可以与斯皮茨瘤呈现形态重叠.
- 一大部分黑色素瘤也存在MAP2K1突变.
- 独特的突变模式 (框架内删除与误解突变) 将良性/中间MAP2K1-突变瘤与黑色素瘤区分开来.
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