Department of Dermatology, University of Arkansas for Medical Sciences, 4301 W. Markham Street, Little Rock, AR 72205, USA.
Cells. 2020 Aug 29;9(9):1992. doi: 10.3390/cells9091992.
Sézary syndrome (SS), an aggressive cutaneous T-cell lymphoma (CTCL) with poor prognosis, is characterized by the clinical hallmarks of circulating malignant T cells, erythroderma and lymphadenopathy. However, highly variable clinical skin manifestations and similarities with benign mimickers can lead to significant diagnostic delay and inappropriate therapy that can lead to disease progression and mortality. SS has been the focus of numerous transcriptomic-profiling studies to identify sensitive and specific diagnostic and prognostic biomarkers. Benign inflammatory disease controls (e.g., psoriasis, atopic dermatitis) have served to identify chronic inflammatory phenotypes in gene expression profiles, but provide limited insight into the lymphoproliferative and oncogenic roles of abnormal gene expression in SS. This perspective was recently clarified by a transcriptome meta-analysis comparing SS and lymphocytic-variant hypereosinophilic syndrome, a benign yet often clonal T-cell lymphoproliferation, with clinical features similar to SS. Here we review the rationale for selecting lymphocytic-variant hypereosinophilic syndrome (L-HES) as a disease control for SS, and discuss differentially expressed genes that may distinguish benign from malignant lymphoproliferative phenotypes, including additional context from prior gene expression studies to improve understanding of genes important in SS.
蕈样肉芽肿(SS),一种预后不良的侵袭性皮肤 T 细胞淋巴瘤(CTCL),其特征是循环恶性 T 细胞、红皮病和淋巴结病的临床特征。然而,高度可变的临床皮肤表现和与良性模仿者的相似性可能导致显著的诊断延迟和不适当的治疗,从而导致疾病进展和死亡。SS 一直是许多转录组分析研究的重点,以确定敏感和特异的诊断和预后生物标志物。良性炎症性疾病对照(如银屑病、特应性皮炎)用于识别基因表达谱中的慢性炎症表型,但对 SS 中异常基因表达的淋巴增殖和致癌作用提供的见解有限。最近,一项比较 SS 和淋巴细胞变异型嗜酸性粒细胞增多症(一种良性但经常克隆性 T 细胞淋巴增生,其临床特征与 SS 相似)的转录组荟萃分析澄清了这一观点。在这里,我们回顾了选择淋巴细胞变异型嗜酸性粒细胞增多症(L-HES)作为 SS 疾病对照的原理,并讨论了可能区分良性和恶性淋巴增殖表型的差异表达基因,包括来自先前基因表达研究的更多背景信息,以提高对 SS 中重要基因的理解。