Use of circulating tumor DNA to guide treatment of primary central nervous system lymphoma: a case report

Ho, Ka-wai; Bale, Tejus; Grommes, Christian; Bhatia, Ankush; Malani, Rachna

doi:10.1093/noajnl/vdab143

Cited by 2 publications

(3 citation statements)

References 14 publications

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“…The latter finding is particularly encouraging because prior studies reported less success with detecting ctDNA in plasma than in CSF. [8][9][10][11][12] In terms of the detection of specific genetic alterations, ctDNA sequencing frequently showed mutations within members of the B-cell receptor signaling pathway, in particular MYD88 (82%) and CD79B (61%), consistent with prior studies. [13][14][15] In addition to documenting the feasibility of their method, Mutter et al 5 reported clinical variables that were associated with the detection of ctDNA in CSF and plasma.…”

supporting

confidence: 87%

“…Taken together, the findings by Mutter et al 5 point toward several opportunities to incorporate ctDNA profiling into the diagnosis and monitoring of patients with PCNSL. Prior studies had suggested that the detection of MYD88 L265P mutations in CSF might be useful for the diagnosis of PCNSL, 9,16 but genomic markers have not been incorporated into routine diagnostic workflows for PCNSL thus far and only clinical parameters—mainly patient age and performance status—are used in predictive models and risk-stratification for PCNSL clinical trials. 17,18 In terms of minimal residual disease monitoring after therapy, the study supports and extends an earlier report that ctDNA clearance in the CSF was associated with more sustained treatment response in recurrent/refractory patients with PCNSL.…”

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confidence: 99%

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Circulating Tumor DNA in the Blood: A New Frontier in Primary CNS Lymphoma?

Grommes

2023

JCO

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Primary CNS lymphoma (PCNSL) is a rare non-Hodgkin lymphoma limited to the brain, spine, CSF, or eye. 1 The overall incidence of PCNSL is 0.4/100,000 per year, but this rate rises to as high as 4/100,000 per year in the population older than 70 years. 2 Patients often present with subacute neurologic deficits affecting behavior, personality, and cognition. Magnetic resonance imaging typically shows solitary (60%-70%) or multifocal lesions in deep brain structures that are homogeneously enhancing and associated with diffusion weight imaging restriction abnormalities. 3 It can be challenging to distinguish PCNSL from other primary brain malignancies or demyelinating processes and even ischemic stroke. The diagnosis of PCNSL is based on histologic criteria, additional immunohistochemical testing (CD20, CD10, BCL6, and MUM-1), and the exclusion of lymphoma outside the CNS. CSF examination for abnormal cells by cytology and/or flow cytometry is often performed in patients with PCNSL. The majority of PCNSL are diffuse large B-cell lymphoma. Compared with patients with diffuse large B-cell lymphoma in other anatomical sites, patients with PCNSL have poorer outcomes, 4 and many patients suffer disease recurrence after first-line therapy with methotrexate-based combination chemotherapy regimens.

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confidence: 87%

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confidence: 99%

Circulating Tumor DNA in the Blood: A New Frontier in Primary CNS Lymphoma?

Grommes

2023

JCO

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“…Novel diagnostic strategies and biomarkers are necessary to non-invasively detect CNSL, to better stratify patients into risk groups, and to predict therapy responses. Initially, liquid biopsy in PCNSL has been mainly explored in cerebrospinal fluid (CSF) since the low abundance of ctDNA in plasma hampered the detection of the disease ( 52 – 55 ). Recently, thanks to the improved sensitivity of liquid biopsy combining CAPP-seq and PhasED-seq approaches, ctDNA has been detected with a high concordant rate in both plasma and CSF in patients with CNSL ( 56 , 57 ).…”

Section: Applications In Hematological Malignanciesmentioning

confidence: 99%

Liquid biopsy in hematological malignancies: current and future applications

et al. 2023

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The assessment of the cancer mutational profile is crucial for patient management, stratification, and therapeutic decisions. At present, in hematological malignancies with a solid mass, such as lymphomas, tumor genomic profiling is generally performed on the tissue biopsy, but the tumor may harbor genetic lesions that are unique to other anatomical compartments. The analysis of circulating tumor DNA (ctDNA) on the liquid biopsy is an emerging approach that allows genotyping and monitoring of the disease during therapy and follow-up. This review presents the different methods for ctDNA analysis and describes the application of liquid biopsy in different hematological malignancies. In diffuse large B-cell lymphoma (DLBCL) and Hodgkin lymphoma (HL), ctDNA analysis on the liquid biopsy recapitulates the mutational profile of the tissue biopsy and can identify mutations otherwise absent on the tissue biopsy. In addition, changes in the ctDNA amount after one or two courses of chemotherapy significantly predict patient outcomes. ctDNA analysis has also been tested in myeloid neoplasms with promising results. In addition to mutational analysis, liquid biopsy also carries potential future applications of ctDNA, including the analysis of ctDNA fragmentation and epigenetic patterns. On these grounds, several clinical trials aiming at incorporating ctDNA analysis for treatment tailoring are currently ongoing in hematological malignancies.

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Use of circulating tumor DNA to guide treatment of primary central nervous system lymphoma: a case report

Cited by 2 publications

References 14 publications

Circulating Tumor DNA in the Blood: A New Frontier in Primary CNS Lymphoma?

Circulating Tumor DNA in the Blood: A New Frontier in Primary CNS Lymphoma?

Liquid biopsy in hematological malignancies: current and future applications

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