Abstract
Background and Objectives: 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. Materials and Methods: 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. Results: 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. Conclusions: 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.
Highlights
Primary cutaneous lymphoma (PCL) is a subtype of non-Hodgkin lymphoma and represents progressive clonal proliferation in the skin, of B-cells, T-cells or NK-cells
We focus on recognizing molecular events involved in Mycosis fungoides (MF) pathogenicity, decipher novel molecular events linked to the biology of this disease, and highlight genetic alterations in MF vs. large plaque parapsoriasis (LPP), leading to the develop of new accurate diagnostic tools
As mentioned before, LPP is considered a typical presentation of MF by some authors, it is obvious that the real essence of LPP physiopathology is still questionable, along with its diagnosis and treatment
Summary
Primary cutaneous lymphoma (PCL) is a subtype of non-Hodgkin lymphoma and represents progressive clonal proliferation in the skin, of B-cells, T-cells or NK-cells. The expansion of small- to medium-sized memory Thelper lymphocyte (CD45RO and CD4) into a malignant clone shows an affinity for the skin; the memory T-helper clone is mediated by the interaction with dermal capillary endothelial cells and numerous cytokines released by keratinocytes [1]. In this so-called skin stage, the diagnosis is often delayed for an average of six years because of its similarity with inflammatory or infectious dermatoses [2]. The similarity between these two pathologies in terms of CNAs is striking, emphasizing once again the difficulty of approaching and differentiating them
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