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数字空间分析表明皮肤纤维瘤突起体与其常规对应物之间存在差异
Nicholas Frazzette1, Suvrajit Maji2, Nada Mohamed3
1Department of Pathology, NYU Langone Health, New York, NY 10016, USA.
概括
在皮肤纤维素瘤突起症 (DFSP) 中诊断纤维素瘤变异是具有挑战性的. PRAME蛋白表达可以帮助识别这种激进的DFSP亚型,有助于在小型活检中进行诊断.
科学领域:
- 癌症学
- 皮肤病理学
- 分子病理学
背景情况:
- 皮肤纤维瘤突起 (DFSP) 是一种罕见的皮肤癌,已知局部复发.
- DFSP的一个子集可以转化为更高等级的肉瘤 (FST-DFSP),表现出更具侵略性的行为和转移潜力.
- FST-DFSP的组织学诊断可能很困难,特别是在有限的活检样本中,目前没有特定的诊断标记.
研究的目的:
- 识别能够区分DFSP中的纤维沙变异 (FST) 和常规DFSP的分子标记.
- 通过免疫组织化学验证FST-DFSP中发现的标记物的诊断效用,特别是PRAME.
主要方法:
- 在DFSP和FST-DFSP病例的组织微阵列上进行了转录组的数字空间分析.
- 分析了基因表达数据,以在传统的 DFSP 和 FST-DFSP 区域之间找到差异表达的基因.
- 在DFSP和FST-DFSP样本上进行了PRAME的免疫组织化学测试,以评估蛋白质表达水平.
主要成果:
- 数字空间分析显示FST-DFSP与传统的DFSP之间存在显著的基因表达差异.
- 在FST-DFSP中显著过度表达的基因包括PRAME,CTAG1B和MMP11.
- 在70%的FST- DFSP病例中,免疫组织化学证实了PRAME的过度表达,而在常规DFSP病例中,这一比例为4% (p< 0. 0001).
结论:
- 与传统的DFSP相比,基因表达特征突出显示了FST-DFSP中的PRAME和CTAG1B的上调.
- PRAME免疫组织化学作为一个有价值的工具来支持FT-DFSP的诊断,特别是在具有挑战性的小活检中.
- 在FST-DFSP中CTAG1B的高表达表明潜在的未来治疗点.
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