Liquid biopsies of plasma and cerebrospinal fluid are useful for detection of intravascular lymphoma with central nervous system symptoms alone

Hosoi, Hiroki; Tanigawa, Ikuro; Kosako, Hideki; Okamoto, Akinao; Iwamoto, Ryuta; Koh, Jinsoo; Mori, Megumi; Hiroi, Takayuki; Mushino, Toshiki; Murata, Shogo; Tamura, Shinobu; Murata, Shin Ichi; Tomita, Akihiro; Sawada, Takashi

doi:10.1007/s00277-021-04572-2

Cited by 3 publications

(7 citation statements)

References 10 publications

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“…Cases of IVLBCL of the CNS were excluded in this study. In IVLBCL, mutation analysis using plasma‐cfDNA has been reported to be highly sensitive, 18,34 and our limited experience suggests that plasma‐cfDNA might be more sensitive than CSF‐cfDNA for the detection of IVLBCL ( 32 and unpublished data). This phenomenon could be related to the fact that the CSF and intravascular space are partitioned by the blood–brain barrier.…”

Section: Discussionmentioning

confidence: 88%

“…This method is currently being utilized in translational research for genetic mutation analyses, and in the detection of minimal residual diseases in various fields, including DLBCL, 18,22–25 Hodgkin lymphoma, 26,27 T‐cell lymphomas, 28,29 and IVLBCL 18 . The use of liquid biopsy using CSF has also been studied in the context of PCNSL, in the hope that it might contribute to diagnosis of this condition 4,20,30–33 . Furthermore, recent reports suggest the potential advantage of liquid biopsy in CNSL in enabling earlier detection of tumors than conventional diagnostic strategies 4,32 …”

Section: Introductionmentioning

confidence: 99%

“…18 The use of liquid biopsy using CSF has also been studied in the context of PCNSL, in the hope that it might contribute to diagnosis of this condition. 4,20,[30][31][32][33] Furthermore, recent reports suggest the potential advantage of liquid biopsy in CNSL in enabling earlier detection of tumors than conventional diagnostic strategies. 4,32 However, information on mutation status in benign diseases other than CNSL, which need to be distinguished clinically, still needs to be accumulated.…”

Section: Introductionmentioning

confidence: 99%

“…4,20,[30][31][32][33] Furthermore, recent reports suggest the potential advantage of liquid biopsy in CNSL in enabling earlier detection of tumors than conventional diagnostic strategies. 4,32 However, information on mutation status in benign diseases other than CNSL, which need to be distinguished clinically, still needs to be accumulated. In this study, we focused on CNSL and CNS infectious/demyelinating diseases and confirmed the benefits of liquid biopsy using CSF-cfDNA by utilizing the droplet-digital PCR (ddPCR) method, a relatively simple quantitative detection strategy that can potentially be utilized in a clinical setting.…”

Section: Introductionmentioning

confidence: 99%

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Utility of cerebrospinal fluid liquid biopsy in distinguishing CNS lymphoma from cerebrospinal infectious/demyelinating diseases

Iriyama,

Murate,

Iba

et al. 2023

Cancer Medicine

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BackgroundDistinguishing between central nervous system lymphoma (CNSL) and CNS infectious and/or demyelinating diseases, although clinically important, is sometimes difficult even using imaging strategies and conventional cerebrospinal fluid (CSF) analyses. To determine whether detection of genetic mutations enables differentiation between these diseases and the early detection of CNSL, we performed mutational analysis using CSF liquid biopsy technique.MethodsIn this study, we extracted cell‐free DNA from the CSF (CSF‐cfDNA) of CNSL (N = 10), CNS infectious disease (N = 10), and demyelinating disease (N = 10) patients, and performed quantitative mutational analysis by droplet‐digital PCR. Conventional analyses were also performed using peripheral blood and CSF to confirm the characteristics of each disease.ResultsBlood hemoglobin and albumin levels were significantly lower in CNSL than CNS infectious and demyelinating diseases, CSF cell counts were significantly higher in infectious diseases than CNSL and demyelinating diseases, and CSF‐cfDNA concentrations were significantly higher in infectious diseases than CNSL and demyelinating diseases. Mutation analysis using CSF‐cfDNA detected MYD88L265P and CD79Y196 mutations in 60% of CNSLs each, with either mutation detected in 80% of cases. Mutual existence of both mutations was identified in 40% of cases. These mutations were not detected in either infectious or demyelinating diseases, and the sensitivity and specificity of detecting either MYD88/CD79B mutations in CNSL were 80% and 100%, respectively. In the four cases biopsied, the median time from collecting CSF with the detected mutations to definitive diagnosis by conventional methods was 22.5 days (range, 18–93 days).ConclusionsThese results suggest that mutation analysis using CSF‐cfDNA might be useful for differentiating CNSL from CNS infectious/demyelinating diseases and for early detection of CNSL, even in cases where brain biopsy is difficult to perform.

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Section: Discussionmentioning

confidence: 88%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Utility of cerebrospinal fluid liquid biopsy in distinguishing CNS lymphoma from cerebrospinal infectious/demyelinating diseases

Iriyama,

Murate,

Iba

et al. 2023

Cancer Medicine

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“…Considering recent findings of cerebrospinal fluid (CSF) in CNS lymphoma and IVLBCL, cfDNA in CSF in addition to flow cytometry might be a promising way to accurately evaluate CNS involvement. [42][43][44]…”

Section: Ta B L E 1 Comparison Of Symptoms and Laboratory Findings Of Ivlbcl Patients Among Geographical Areasmentioning

confidence: 99%

Current progress and future perspectives of research on intravascular large B‐cell lymphoma

Shimada

Kiyoi

2021

Cancer Science

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Intravascular large B-cell lymphoma (IVLBCL) is a rare type of extranodal large B-cell lymphoma characterized by the selective growth of tumor cells in the lumina of systemic organ small vessels (Figure 1). 1 The disease mainly affects middle-aged and elderly adults, similar to other types of malignant lymphoma. A peculiar characteristic of the disease is the lack of lymphadenopathy, which is a general characteristic of malignant lymphoma, and the disease develops with nonspecific symptoms such as fever, general fatigue, and respiratory symptoms, which hamper timely and precise diagnosis. The existence of the disease is suspected only after the appearance of systemic symptoms mentioned above, and the delay in diagnosis directly leads to deteriorating general conditions due to progression. Since being listed in the 4th edition of the World Health Organization (WHO) classification as a distinct disease entity, 2 awareness of the disease has improved, leading to increased timely diagnosis. In this review, we will discuss recent progress in research and treatment of the disease and future perspectives.

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Dominant susceptibility-weighted imaging features of intravascular large B-cell lymphoma with central nervous system involvement

Ying

et al. 2022

Ann Hematol

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Liquid biopsies of plasma and cerebrospinal fluid are useful for detection of intravascular lymphoma with central nervous system symptoms alone

Cited by 3 publications

References 10 publications

Utility of cerebrospinal fluid liquid biopsy in distinguishing CNS lymphoma from cerebrospinal infectious/demyelinating diseases

Utility of cerebrospinal fluid liquid biopsy in distinguishing CNS lymphoma from cerebrospinal infectious/demyelinating diseases

Current progress and future perspectives of research on intravascular large B‐cell lymphoma

Dominant susceptibility-weighted imaging features of intravascular large B-cell lymphoma with central nervous system involvement

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