Theodora A M Claushuis, Marielle J Wondergem, Henriette B Beverloo, Marise R Heerma van Voss, Remco J Molenaar, Maud Zwolsman, Fleur M van der Valk, Hans L Mooij, Lianne Koens, Sanne H Tonino
{"title":"一滴血引路。","authors":"Theodora A M Claushuis, Marielle J Wondergem, Henriette B Beverloo, Marise R Heerma van Voss, Remco J Molenaar, Maud Zwolsman, Fleur M van der Valk, Hans L Mooij, Lianne Koens, Sanne H Tonino","doi":"10.3390/hematolrep17040040","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background and Significances:</b> 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. <b>Case Presentation:</b> 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. <b>Conclusions:</b> This report underscores the potential of the liquid biopsy as a valuable diagnostic tool in complex cases of EBV-HLH.</p>","PeriodicalId":12829,"journal":{"name":"Hematology Reports","volume":"17 4","pages":""},"PeriodicalIF":1.2000,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12386260/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Drop of Blood to Lead the Way.\",\"authors\":\"Theodora A M Claushuis, Marielle J Wondergem, Henriette B Beverloo, Marise R Heerma van Voss, Remco J Molenaar, Maud Zwolsman, Fleur M van der Valk, Hans L Mooij, Lianne Koens, Sanne H Tonino\",\"doi\":\"10.3390/hematolrep17040040\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Background and Significances:</b> 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. <b>Case Presentation:</b> 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. <b>Conclusions:</b> This report underscores the potential of the liquid biopsy as a valuable diagnostic tool in complex cases of EBV-HLH.</p>\",\"PeriodicalId\":12829,\"journal\":{\"name\":\"Hematology Reports\",\"volume\":\"17 4\",\"pages\":\"\"},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2025-08-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12386260/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hematology Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3390/hematolrep17040040\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hematology Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3390/hematolrep17040040","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Background and Significances: 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. Case Presentation: 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. Conclusions: This report underscores the potential of the liquid biopsy as a valuable diagnostic tool in complex cases of EBV-HLH.
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