文章：

良性、中间型及恶性斯皮茨与斯皮茨样黑色素细胞病变的基因表达谱分析

Gene Expression Profile of Benign, Intermediate, and Malignant Spitz and Spitzoid Melanocytic Lesions

原文发布日期：8 May 2024

DOI: 10.3390/cancers16101798

类型: Article

开放获取: 是

英文摘要：

Spitz and Spitzoid lesions represent one of the most challenging melanocytic neoplasms in dermatopathology. Nosologic classification has been more recently improved by the discovery of novel molecular drivers, particularly translocations. In the current study, we aimed to use an unbiased approach to explore the gene expression profile of a group of melanocytic Spitz and Spitzoid melanocytic lesions ranging from benign lesions to melanoma, including intermediate lesions such as SPARK nevi and atypical Spitz tumors/melanocytomas. Using unsupervised analysis of gene expression data, we found some distinct hierarchical clusters of lesions, including groups characterized byALKandNTRKtranslocations. Few non-ALK translocated tumors demonstrated increased ALK expression, confirmed by immunohistochemistry. Spitz tumors with overlapping features of dysplastic nevi, so-called SPARK nevi, appear to have a common gene expression profile by hierarchical clustering. Finally, weighted gene correlation network analysis identified gene modules variably regulated in subtypes of these cases. Thus, gene expression profiling of Spitz and Spitzoid lesions represents a viable instrument for the characterization of these lesions.

摘要翻译： 

斯皮茨与斯皮茨样病变是皮肤病理学中最具挑战性的黑色素细胞肿瘤之一。随着新型分子驱动因子（特别是易位现象）的发现，其疾病分类学体系近期得到了显著改进。本研究旨在采用无偏倚方法，探究一组涵盖良性病变至黑色素瘤（包括SPARK痣与非典型斯皮茨肿瘤/黑色素细胞瘤等中间型病变）的黑色素细胞性斯皮茨与斯皮茨样病变的基因表达谱。通过对基因表达数据进行无监督分析，我们发现了若干具有显著差异的病变层级聚类群，其中包含以ALK和NTRK基因易位为特征的亚群。少数非ALK易位肿瘤通过免疫组化证实存在ALK表达上调现象。具有发育不良痣重叠特征的斯皮茨肿瘤（即SPARK痣）通过层级聚类显示出共同的基因表达谱。最后，加权基因共表达网络分析识别出在这些病例亚型中差异调控的基因模块。因此，基因表达谱分析可作为解析斯皮茨与斯皮茨样病变特征的有效工具。

原文链接：

Gene Expression Profile of Benign, Intermediate, and Malignant Spitz and Spitzoid Melanocytic Lesions