Scuderi Grazia, Mangano Katia, Leone Gian Marco, Fagone Paolo, Nicoletti Ferdinando
Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
Scand J Immunol. 2025 Jul;102(1):e70040. doi: 10.1111/sji.70040.
Burkitt lymphoma (BL) is an aggressive non-Hodgkin B-cell lymphoma characterised by chromosomal translocations involving the MYC gene, leading to its overexpression and driving uncontrolled proliferation. BL is categorised into endemic, sporadic, and immunodeficiency-associated subtypes, each with distinct clinical and epidemiological features. TSPAN32, a member of the tetraspanin family, plays a key role in B cell development and immune regulation. In this study, we investigated the regulation of TSPAN32 expression in BL subtypes. Our results show that TSPAN32 expression is significantly downregulated in endemic, sporadic, and HIV-associated BL. Notably, this downregulation is independent of Epstein-Barr virus (EBV) infection, as no significant differences in TSPAN32 expression were observed between EBV-positive and EBV-negative BL clones. Functional studies revealed that overexpression of a wild-type ID3 gene, a known repressor of TCF3, and knockdown of TCF3, both led to a significant upregulation of TSPAN32, particularly in BL41 and Daudi cells, which harbour ID3 mutations. Supporting this, ChIP-seq analysis identified TCF3 binding peaks on the TSPAN32 gene, providing mechanistic evidence of its regulation by TCF3. These findings shed light on the complex transcriptional network regulating TSPAN32 and its dysregulation in BL. Overall, our study suggests that TSPAN32 may serve as both a biomarker and a potential therapeutic target for this disease.
伯基特淋巴瘤(BL)是一种侵袭性非霍奇金B细胞淋巴瘤,其特征是涉及MYC基因的染色体易位,导致该基因过度表达并驱动不受控制的增殖。BL分为地方性、散发性和免疫缺陷相关亚型,每种亚型都有独特的临床和流行病学特征。四跨膜蛋白家族成员TSPAN32在B细胞发育和免疫调节中起关键作用。在本研究中,我们调查了BL各亚型中TSPAN32表达的调控情况。我们的结果表明,TSPAN32表达在地方性、散发性和HIV相关的BL中显著下调。值得注意的是,这种下调与爱泼斯坦-巴尔病毒(EBV)感染无关,因为在EBV阳性和EBV阴性的BL克隆之间未观察到TSPAN32表达的显著差异。功能研究表明,已知的TCF3抑制剂野生型ID3基因的过表达以及TCF3的敲低,均导致TSPAN32显著上调,特别是在携带ID3突变的BL41和Daudi细胞中。支持这一观点的是,染色质免疫沉淀测序(ChIP-seq)分析在TSPAN32基因上鉴定出TCF3结合峰,为TCF3对其调控提供了机制证据。这些发现揭示了调节TSPAN32的复杂转录网络及其在BL中的失调。总体而言,我们的研究表明TSPAN32可能作为该疾病的生物标志物和潜在治疗靶点。