与 t(1;22)(p22;q11.2)突变有关的儿童系统性 Epstein-Barr 病毒阳性 T 细胞淋巴瘤。

IF 1.3 Q4 HEMATOLOGY
Journal of hematology Pub Date : 2024-10-01 Epub Date: 2024-10-03 DOI:10.14740/jh1284
Lane Lerner, Sushanth Sreenivasan, Chelsea Peterson, Maitreyee Rai, Pragnan Kancharla, Samuel Santosa, Mark Bunker, Yazan Samhouri
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引用次数: 0

摘要

儿童系统性爱泼斯坦-巴氏病毒阳性(EBV+)T细胞淋巴瘤(TCL)是一种不常见的TCL,继发于急性或慢性EBV感染。这种疾病的特点是,EBV+ T 细胞在免疫反应增强和调节途径缺陷的驱动下单克隆扩增。因此,儿童期全身性 EBV+ TCL 常常伴有高炎症状态、嗜血细胞淋巴组织细胞增多症(HLH)综合征,临床病程凶险,预后不良。此外,据推测,特定染色体位点(如染色体 22q11.2)的基因改变会增加癌变几率,并增加日后罹患非霍奇金淋巴瘤的风险。化疗、免疫疗法和异基因干细胞移植是治疗方案,但成功率各不相同。在本报告中,我们描述了一例 21 岁男性原发性急性 EBV 感染导致 HLH 综合征的病例。他最终被诊断为儿童期全身性 EBV+ TCL。尽管接受了化疗,但患者在进行异基因干细胞移植前去世。我们探讨了他的临床病理特征以及t(1;22)(p22;q11.2)断点处可能存在的新致癌位点。我们的病例强调了在成人 HLH 病例中保留广泛鉴别诊断的重要性,包括儿童期全身性 EBV+ TCL 的不寻常表现。该病例还强调了一个可能与免疫性恶性肿瘤相关的新基因位点,值得进一步研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma of Childhood Associated With t(1;22)(p22;q11.2) Mutation.

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.

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来源期刊
Journal of hematology
Journal of hematology HEMATOLOGY-
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