文章：

非典型纤维黄色瘤与多形性真皮肉瘤的分子特征研究

Molecular Characterization of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma

原文发布日期：27 May 2025

DOI: 10.3390/cancers17111785

类型: Article

开放获取: 是

英文摘要：

Atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS) are dermal-based sarcomas that fall along a spectrum with different rates of local recurrence and metastasis. While AFX is less aggressive and confined to the dermis, PDS invades the subcutis. These tumors are most likely of mesenchymal origin, although they share common mutations with undifferentiated squamous cell carcinoma. Due to the rarity of these tumors, few studies have examined their molecular composition and gene expression. Initial studies, including exome and bulk RNA sequencing, targeted DNA sequencing of gene panels, DNA methylation, and copy number analyses, have identified recurrent UV-induced mutations inTP53,NOTCH,CDKN2A, and theTERTpromoter. Recently, the first scRNA-seq dataset in AFX and PDS identifiedCOL6A3as a novel biomarker. In this review, we synthesize the above datasets and discuss our current understanding of the molecular drivers and prognostic biomarkers in these tumors.

摘要翻译： 

非典型纤维黄色瘤（AFX）和多形性真皮肉瘤（PDS）是位于真皮层的肉瘤，二者属于同一疾病谱系但具有不同的局部复发和转移率。AFX侵袭性较低且局限于真皮层，而PDS则会侵犯皮下组织。这些肿瘤很可能起源于间叶组织，尽管它们与未分化鳞状细胞癌存在共同的基因突变。由于此类肿瘤较为罕见，目前对其分子构成和基因表达的研究较少。早期研究通过外显子组测序、批量RNA测序、靶向基因组合DNA测序、DNA甲基化及拷贝数分析，已发现TP53、NOTCH、CDKN2A基因及TERT启动子存在反复出现的紫外线诱导突变。近期首个针对AFX和PDS的单细胞RNA测序数据集鉴定出COL6A3作为新型生物标志物。本综述整合上述数据集，探讨当前对这些肿瘤分子驱动因素及预后生物标志物的认知进展。

原文链接：

Molecular Characterization of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma