皮下泛发性T细胞淋巴瘤和狼疮泛发性T细胞淋巴瘤的不同突变谱:新增病例系列。

IF 3.8 Q1 DERMATOLOGY Actas dermo-sifiliograficas Pub Date : 2024-11-18 DOI:10.1016/j.ad.2024.11.006
S Machan, M Rodríguez, R Manso, J Borregón, C Chamizo, R Alonso-Alonso, J L Rodríguez-Peralto, M Á Torres Nieto, C Monteagudo, E García Toro, L Cerroni, C García, T Estrach, A García Herrera, B Ferrer, V García-Patos, N Segues, F J Díaz de la Pinta, J L Afonso-Martin, Y Peñate, M Á Limeres-Gonzalez, M Á González-Núñez, C González-Cruz, E García Fernández, L Cereceda, P Minguez, L de la Fuente, L Requena, S M Rodríguez-Pinilla
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引用次数: 0

摘要

背景和目的:皮下泛发性类T细胞淋巴瘤(SPTCL)是一种罕见的细胞毒性T细胞淋巴瘤,表现为懒散性,多见于女性,与免疫学疾病相关,其致病背景仍不甚明了。SPTCL与红斑狼疮泛发性淋巴结炎(LEP)相关,在组织学上被误诊。目的:我们的研究旨在确定影响SPTCL和LEP发病机制的基因突变。材料与方法:我们使用靶向新一代测序技术和热释光测序技术共研究了10例SPTCL和10例LEP患者。使用 NanoString 技术研究了分子亚群之间基因表达的差异。结果:SPTCL 和 LEP 的基因突变情况不同。我们在SPTCL中发现的致病突变少于之前的报道,只发现一例HAVCR2突变的SPTCL病例。有趣的是,40%的SPTCL病例出现了致病性TP53(p.Pro72Arg)(P72R)变异。虽然出现HAVCR2突变或TP53(P72R)变异的病例症状更为严重,但没有一例出现嗜血细胞综合征(HPS)。此外,TP53(P72R)阳性病例的特点是代谢信号通路较低,CD28表达和Treg信号基因水平较高。此外,30%的病例具有相同的表观遗传修饰基因 DNMT3A 突变(T735C)。结论:SPTCL的基因突变情况比以前预期的要广泛。我们首次描述了 TP53(P72R)致病变异参与该亚组肿瘤的情况,考虑了不同遗传背景在 SPTCL 发病中可能扮演的角色,并得出结论认为 LEP 与 SPTCL 的发病途径不同。
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Different Mutational Profiles of Subcutaneous Panniculitis-like T-cell Lymphoma and Lupus Panniculitis: An Additional Case Series.

Background and objective: subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic T-cell lymphoma with indolent behavior, mostly present in women and associated with immunological diseases whose pathogenic background is still poorly understood. SPTCL is associated with lupus erythematosus panniculitis (LEP) and histologically misdiagnosed.

Objectives: the aim of our study was to identify mutations affecting the pathogenesis of both SPTCL and LEP.

Materials and methods: we studied a total of 10 SPTCL and 10 LEP patients using targeted Next Generation Sequencing and pyrosequencing. Differences in gene expression between molecular subgroups were investigated using NanoString technology. Clinical data were collected, and correlations sought with the molecular data obtained.

Results: the mutational profile of SPTCL and LEP is different. We identified fewer pathogenic mutations than previously reported in SPTCL, noting a single HAVCR2-mutated SPTCL case. Interestingly, 40% of our SPTCL cases showed the pathogenic TP53 (p.Pro72Arg) (P72R) variant. Although cases showing HAVCR2 mutations or the TP53 (P72R) variant had more severe symptomatic disease, none developed hemophagocytic syndrome (HPS). Furthermore, TP53 (P72R)-positive cases were characterized by a lower metabolic signaling pathway and higher levels of CD28 expression and Treg signaling genes. In addition, 30% of our cases featured the same mutation (T735C) of the epigenetic modificatory gene DNMT3A. None of the LEP cases showed mutations in any of the studied genes.

Conclusions: the mutational landscape of SPTCL is broader than previously anticipated. We describe, for the first time, the involvement of the TP53 (P72R) pathogenic variant in this subgroup of tumors, consider the possible role of different genetic backgrounds in the development of SPTCL, and conclude that LEP does not follow the same pathogenic pathway as SPTCL.

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来源期刊
CiteScore
1.90
自引率
9.40%
发文量
473
审稿时长
56 weeks
期刊介绍: Actas Dermo-Sifiliográficas, publicación Oficial de la Academia Española de Dermatología y Venereología, es una revista de prestigio consolidado. Creada en 1909, es la revista mensual más antigua editada en España.En 2006 entró en Medline, y hoy resulta imprescindible para estar al día sobre la dermatología española y mundial.
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