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从良性炎症性皮肤病到皮肤淋巴瘤。蕈样肉芽肿与大斑块副银屑病的 DNA 拷贝数失衡。

From Benign Inflammatory Dermatosis to Cutaneous Lymphoma. DNA Copy Number Imbalances in Mycosis Fungoides versus Large Plaque Parapsoriasis.

机构信息

Research Center for the Morphologic Study of the Skin, Department of Dermatology and Venereology, "Victor Babeș" University of Medicine and Pharmacy, Eftimie Murgu Sq. No. 2, 300041 Timișoara, Romania.

Emergency City Hospital, University Clinic of Dermatology and Venereology, 300558 Timișoara, Romania.

出版信息

Medicina (Kaunas). 2021 May 15;57(5):502. doi: 10.3390/medicina57050502.

DOI:10.3390/medicina57050502
PMID:34063545
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8156635/
Abstract

Mycosis fungoides (MF) and large plaque parapsoriasis (LPP) evolution provide intriguing data and are the cause of numerous debates. The diagnosis of MF and LPP is associated with confusion and imprecise definition. Copy number alterations (CNAs) may play an essential role in the genesis of cancer out of genes expression dysregulation. Objectives: Due to the heterogeneity of MF and LPP and the scarcity of the cases, there are an exceedingly small number of studies that have identified molecular changes in these pathologies. We aim to identify and compare DNA copy number alterations and gene expression changes between MF and LPP to highlight the similarities and the differences between these pathologies. The patients were prospectively selected from University Clinic of Dermatology and Venereology Timișoara, Romania. From fresh frozen skin biopsies, we extracted DNA using single nucleotide polymorphism (SNP) data. The use of SNP array for copy number profiling is a promising approach for genome-wide analysis. After reviewing each group, we observed that the histograms generated for chromosome 1-22 were remarkably similar and had a lot of CNAs in common, but also significant differences were seen. This study took a step forward in finding out the differences and similarities between MF and LPP, for a more specific and implicitly correct approach of the case. The similarity between these two pathologies in terms of CNAs is striking, emphasizing once again the difficulty of approaching and differentiating them.

摘要

蕈样肉芽肿 (MF) 和大斑块副银屑病 (LPP) 的演变提供了有趣的数据,是许多争论的原因。MF 和 LPP 的诊断与混淆和不精确的定义有关。拷贝数改变 (CNAs) 可能在基因表达失调导致癌症的发生中起重要作用。目的:由于 MF 和 LPP 的异质性和病例稀少,极少数研究已经确定了这些病理变化中的分子变化。我们旨在鉴定和比较 MF 和 LPP 之间的 DNA 拷贝数改变和基因表达变化,以突出这些病理之间的相似性和差异。患者前瞻性地从罗马尼亚蒂米什瓦拉大学皮肤科和性病诊所选择。从新鲜冷冻皮肤活检中,我们使用单核苷酸多态性 (SNP) 数据提取 DNA。使用 SNP 阵列进行拷贝数分析是一种有前途的全基因组分析方法。在回顾了每个组后,我们观察到生成的染色体 1-22 直方图非常相似,有很多共同的 CNAs,但也有明显的差异。这项研究在发现 MF 和 LPP 之间的差异和相似性方面向前迈进了一步,为更具体和隐含正确的病例处理方法。这两种病理在 CNAs 方面的相似性引人注目,再次强调了它们在处理和区分上的困难。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a618/8156635/12d24d6b5788/medicina-57-00502-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a618/8156635/12d24d6b5788/medicina-57-00502-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a618/8156635/12d24d6b5788/medicina-57-00502-g001.jpg

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