Lerner Lane, Sreenivasan Sushanth, Peterson Chelsea, Rai Maitreyee, Kancharla Pragnan, Santosa Samuel, Bunker Mark, Samhouri Yazan
College of Medicine, Unit K, Drexel University, Philadelphia, PA, USA.
These authors contributed equally to this article.
J Hematol. 2024 Oct;13(5):229-237. doi: 10.14740/jh1284. Epub 2024 Oct 3.
Systemic Epstein-Barr virus-positive (EBV) T-cell lymphoma (TCL) of childhood is an uncommon TCL that occurs secondary to an acute or chronic EBV infection. The disorder is characterized by the monoclonal expansion of EBV T cells driven by an increased immune response and defect in regulatory pathways. Thus, systemic EBV TCL of childhood is frequently associated with a hyperinflammatory state, hemophagocytic lymphohistiocytosis (HLH) syndrome, and exhibits a fulminant clinical course with poor outcomes. Additionally, genetic alterations at specific chromosome loci, such as chromosome 22q11.2, are hypothesized to increase the chances of carcinogenic transformation and increase the risk of non-Hodgkin lymphoma later in life. Chemotherapy, immunotherapy, and allogenic stem cell transplants are treatment options with varying degrees of success. In this report, we describe a case of a 21-year-old male with a primary acute EBV infection that led to HLH syndrome. He was ultimately diagnosed with systemic EBV TCL of childhood. Despite treatment chemotherapy, the patient passed before an allogenic stem cell transplant could be performed. We explore the clinicopathological features of his disease and a possible new oncogenic locus at the t(1;22)(p22;q11.2) breakpoint. Our case underscores the importance of retaining a wide differential diagnosis, including unusual presentations of systemic EBV TCL of childhood, when presented with an adult case of HLH. It also highlights a possible new genetic locus associated with immunological malignancies that warrants further study.
儿童系统性爱泼斯坦-巴尔病毒（EBV）阳性T细胞淋巴瘤（TCL）是一种罕见的TCL，继发于急性或慢性EBV感染。该疾病的特征是由免疫反应增强和调节途径缺陷驱动的EBV T细胞单克隆扩增。因此，儿童系统性EBV TCL常与高炎症状态、噬血细胞性淋巴组织细胞增生症（HLH）综合征相关，并表现出暴发性临床病程，预后较差。此外，特定染色体位点的基因改变，如22q11.2染色体，被认为会增加致癌转化的机会，并增加晚年患非霍奇金淋巴瘤的风险。化疗、免疫疗法和同种异体干细胞移植是不同程度成功的治疗选择。在本报告中，我们描述了一例21岁男性，其原发性急性EBV感染导致HLH综合征。他最终被诊断为儿童系统性EBV TCL。尽管进行了化疗，但在进行同种异体干细胞移植之前，患者去世。我们探讨了他疾病的临床病理特征以及t(1;22)(p22;q11.2)断点处一个可能的新致癌位点。我们的病例强调了在遇到成人HLH病例时，保持广泛鉴别诊断的重要性，包括儿童系统性EBV TCL的不寻常表现。它还突出了一个与免疫恶性肿瘤相关的可能新基因位点，值得进一步研究。
