Claushuis Theodora A M, Wondergem Marielle J, Beverloo Henriette B, Heerma van Voss Marise R, Molenaar Remco J, Zwolsman Maud, van der Valk Fleur M, Mooij Hans L, Koens Lianne, Tonino Sanne H
Department of Hematology, Amsterdam University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.
Department of Clinical Genetics, Erasmus Medical Center, Dr. Molewaterplein 40, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands.
Hematol Rep. 2025 Aug 5;17(4):40. doi: 10.3390/hematolrep17040040.
In patients with Epstein-Barr virus-driven hemophagocytic lymphohistiocytosis (EBV-HLH), identifying the underlying cause poses a significant diagnostic challenge. HLH may precede overt disease, and early directed treatment for HLH can obscure histopathological findings. A liquid biopsy enables the detection of tumor-derived DNA from various sources, including cell-free DNA, circulating tumor cells, extracellular vesicles, and tumor-educated platelets, and might aid in this setting. This case presents a young patient with EBV-HLH, in which genomic analysis of tumor-derived DNA from circulating tumor cells led to the diagnosis of an EBV-positive NK/T-cell lymphoma-where conventional tissue biopsies had failed. This report underscores the potential of the liquid biopsy as a valuable diagnostic tool in complex cases of EBV-HLH.
在爱泼斯坦-巴尔病毒驱动的噬血细胞性淋巴组织细胞增生症（EBV-HLH）患者中，确定潜在病因是一项重大的诊断挑战。HLH可能在显性疾病之前出现，而对HLH的早期针对性治疗可能会掩盖组织病理学发现。液体活检能够从包括游离DNA、循环肿瘤细胞、细胞外囊泡和肿瘤诱导血小板在内的各种来源检测肿瘤衍生DNA，在这种情况下可能会有所帮助。本病例介绍了一名患有EBV-HLH的年轻患者，其中对循环肿瘤细胞中肿瘤衍生DNA的基因组分析导致了EBV阳性NK/T细胞淋巴瘤的诊断，而传统组织活检未能确诊。本报告强调了液体活检作为EBV-HLH复杂病例中有价值诊断工具的潜力。
