A drop of blood to lead the way

Theodora A. M. Claushuis; Mariëlle J. Wondergem; H. Berna 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:10.21203/rs.3.rs-6585598/v1

July 18, 2025

A drop of blood to lead the way

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Key Points

The core finding is the utility of liquid biopsy in diagnosing patients with EBV-related hemophagocytic lymphohistiocytosis (HLH).
Diagnostic methods included next-generation sequencing (NGS) and SNP-array-based karyotyping in peripheral blood samples.
A comprehensive differential diagnosis was essential to pinpoint the cause of HLH in the 32-year-old patient.
This approach emphasizes the importance of evolving diagnostic techniques like liquid biopsy in clinical practice for complex conditions.

Implication

Case study reveals liquid biopsy assists in diagnosing EBV-related HLH, highlighting innovative diagnostic techniques.

Abstract

Abstract In patients presenting with (Epstein Barr virus (EBV) related) Hemophagocytic lymphohistiocytosis (HLH), differentiating the various underlying causes can be challenging. We present a 32-year-old patient with EBV-related hemophagocytic lymphohistiocytosis (HLH), discuss the differential diagnosis and diagnostic approach, and illustrate how liquid biopsy of peripheral blood—using next-generation sequencing (NGS) or SNP-array-based karyotyping—can contribute to the diagnostic workup.

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Cite This Study

Claushuis et al. (2025) studied this question.

synapsesocial.com/papers/689a0f99e6551bb0af8d14a8 https://doi.org/10.21203/rs.3.rs-6585598/v1

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A drop of blood to lead the way

Key Points

Implication

Abstract

Discussion

Cite This Study

A drop of blood to lead the way

Key Points

Implication

Abstract

Discussion

Cite This Study

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