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表面Wnt-激活的黑色细胞/带连接元件的黑色细胞瘤:一个案例系列

Spencer Ng¹, Katie C Hall¹, Klaus J Busam¹

¹Department of Pathology & Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.

The American Journal of dermatopathology

|August 14, 2024

概括

一种具有结节成分的Wnt激活深透/形黑色素细胞瘤/nevi (DPN) 的表面变体带来了诊断挑战. 这些病例显示出独特的分子标记物,包括核β-catenin和LEF1,使它们与传统的瘤和潜在的黑色素瘤区别开来.

科学领域:

皮肤病理学皮肤病理学
在瘤学瘤学.
分子生物学分子生物学

背景情况:

深度透/形黑色细胞瘤/骨髓瘤 (DPN) 具有Wnt通路激活的特征,通常通过CTNNB1突变.
传统的DPN缺乏接口部件,但具有这种特性的表面变体可能会导致诊断困难.

研究的目的:

描述一组表现出表面结节元件的DPN病例队列.
为了确定这些DPN变体与常规瘤或黑色素瘤之间的诊断挑战和分子区别.

主要方法:

对11个DPN病例的回顾性分析,其中有一个结节组件.
组织病理学评估包括线粒体指数评估.
用于BRAF V600E,PRAME,β-catenin,LEF1和cyclin D1.1.的免疫组织化学染色

主要成果:

所有11例病例都显示出一个结节部件,其中8例也具有常规神经的特征.
免疫组织化学在DPN细胞学中显示出强烈的,扩散的核β-catenin,LEF1和cyclin D1,与常规 nevi的缺席或较弱的染色形成鲜明对比.
在 8/11 个案例中,BRAF V600E 呈阳性,而所有案例都是 PRAME 阴性.

结论:

具有结节元件的DPN可以模仿黑色素瘤或常规瘤,这构成了诊断挑战.
独特的分子形状,特别是核β-catenin和LEF1表达,有助于区分这些DPN变体.
对这种变体及其分子标记物的认识对于准确诊断和避免被误归为黑色素瘤至关重要.

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