Maher Patrick, Guzman Emilia, Chaffin Joanna, Kashif Reema, Burnside Rachel D
Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL 32608, USA.
Department of Pediatric Oncology, University of Florida, Gainesville, FL 32608, USA.
Genes (Basel). 2025 Mar 27;16(4):382. doi: 10.3390/genes16040382.
BACKGROUND/OBJECTIVE: Epstein-Barr Virus (EBV) infection can be associated with lymphocytic hematological malignancies, including systemic Epstein-Barr virus-positive T-cell lymphoma of childhood (SEBVTCL). A common complication of EBV infection, hemophagocytic lymphohistiocytosis (HLH), is a life-threatening condition of immune activation present in virtually all cases of SEBVTCL that requires urgent treatment, as this malignancy can be rapidly fatal. Abnormal karyotypes have been strongly associated with SEBVTCL as a distinguishing feature from HLH in the literature. Here, we discuss the diagnostic challenges and social complications in the case of an unaccompanied minor immigrant patient with a highly complex karyotype diagnosed with SEBVTCL with associated HLH.
Laboratory testing confirmed the presence of EBV+ HLH and cytogenetic analysis was performed to investigate a neoplastic process in this patient, confirming SEBVTCL. Chromosomal microarray (CMA) was performed to try to clarify the complex findings by chromosome analysis but demonstrated normal results.
Chromosome analysis demonstrated a highly complex hypertriploid clone that confirmed the diagnosis of SEBVTCL. After declining treatment, the patient was discharged to his guardian against medical advice and succumbed to his disease shortly after.
SEBVTCL can be challenging to diagnose due to the similarity in clinical and pathological presentations. In virtually all cases reported in the literature, an abnormal karyotype has been reported to be the most important prognostic factor. We propose that in cases with diagnostic ambiguity, an abnormal karyotype can help favor SEBVTCL over EBV+ HLH.
背景/目的：爱泼斯坦-巴尔病毒（EBV）感染可与淋巴细胞性血液系统恶性肿瘤相关，包括儿童系统性EBV阳性T细胞淋巴瘤（SEBVTCL）。EBV感染的一种常见并发症——噬血细胞性淋巴组织细胞增生症（HLH），是一种危及生命的免疫激活状态，几乎在所有SEBVTCL病例中都存在，需要紧急治疗，因为这种恶性肿瘤可能迅速致命。在文献中，异常核型与SEBVTCL密切相关，是其与HLH相区别的一个特征。在此，我们讨论一名无人陪伴的未成年移民患者的诊断挑战和社会并发症，该患者核型高度复杂，被诊断为SEBVTCL并伴有HLH。
实验室检测证实存在EBV+ HLH，并进行了细胞遗传学分析以研究该患者的肿瘤形成过程，确诊为SEBVTCL。进行了染色体微阵列（CMA）检测，试图通过染色体分析来阐明复杂的检测结果，但结果显示正常。
染色体分析显示出一个高度复杂的超三倍体克隆，证实了SEBVTCL的诊断。在拒绝治疗后，患者不听从医嘱出院，不久后死于疾病。
由于临床和病理表现相似，SEBVTCL的诊断可能具有挑战性。在文献报道的几乎所有病例中，异常核型被认为是最重要的预后因素。我们提出，在诊断存在模糊性的病例中，异常核型有助于支持SEBVTCL的诊断而非EBV+ HLH。
