Feasibility of Circulating Tumor DNA Detection in the Cerebrospinal Fluid of Patients With Central Nervous System Involvement in Large B-Cell Lymphoma

被引：0

作者：

Kim, Seok Jin ^{[1
,2
]}

Kim, Jin Ju ^{[3
]}

Park, Mi Ri ^{[4
]}

Park, Bon ^{[2
]}

Ryu, Kyung Ju ^{[2
]}

Yoon, Sang Eun ^{[1
]}

Kim, Won Seog ^{[1
]}

Shin, Saeam ^{[4
]}

Lee, Seung-Tae ^{[4
,5
]}

机构：

[1] Sungkyunkwan Univ, Samsung Med Ctr, Dept Med, Div Hematol Oncol,Sch Med, Seoul, South Korea

[2] Sungkyunkwan Univ, Samsung Adv Inst Hlth Sci & Technol, Dept Hlth Sci & Technol, Seoul, South Korea

[3] Yonsei Univ, Yongin Severance Hosp, Dept Lab Med, Coll Med, Yongin, South Korea

[4] Yonsei Univ, Severance Hosp, Dept Lab Med, Coll Med, 50 Yonsei Ro, Seoul 03722, South Korea

[5] Dxome co Ltd, Seongnam, South Korea

来源：

ANNALS OF LABORATORY MEDICINE | 2025年 / 45卷 / 01期

基金：

新加坡国家研究基金会;

关键词：

Central nervous system; Cerebrospinal fluid; Circulating tumor DNA; Lymphoma; Relapse;

D O I：

10.3343/alm.2024.0257

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

We explored the utility of cerebrospinal fluid (CSF) circulating tumor DNA (ctDNA) sequencing as a noninvasive diagnostic tool for detecting central nervous system (CNS) involvement in patients with diffuse large B-cell lymphoma (DLBCL). Secondary CNS involvement in DLBCL, although rare (similar to 5% of cases), presents diagnostic and prognostic challenges during systemic disease progression or relapse. Effective treatment is impeded by the blood-brain barrier. This was a prospective cohort study (Samsung Lymphoma Cohort Study III) involving 17 patients with confirmed CNS involvement. High-throughput sequencing was conducted using targeted gene panels designed to detect low-frequency variants and copy number alterations pertinent to lymphomas in ctDNA extracted from archived CSF samples. Despite challenges such as low DNA concentrations affecting library construction, the overall variant detection rate was 76%. Detected variants included those in genes commonly implicated in CNS lymphoma, such as MYD88. The study highlights the potential of CSF ctDNA sequencing to identify CNS involvement in DLBCL, providing a promising alternative to more invasive diagnostic methods such as brain biopsy, which are not always feasible. Further validation is necessary to establish the clinical utility of this method, which could significantly enhance the management and outcomes of DLBCL patients with suspected CNS involvement.

引用

页码：90 / 95

页数：6

共 20 条

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