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


Authors: Ho, K. G.; Bale, T.; Grommes, C.; Bhatia, A.; Malani, R.
Article Title: Use of circulating tumor DNA to guide treatment of primary central nervous system lymphoma: A case report
Abstract: Primary central nervous system lymphoma (PCNSL) is a rare tumor that can be difficult to diagnose as it can mimic other CNS diseases. Tissue biopsy is the gold standard for diagnosis, but this is not always feasible if the lesions are in deep structures of the brain. Tissue samples may also be non-diagnostic if steroids have been administered prior to the procedure. Genomic testing of circulating tumor DNA (ctDNA) in the cerebrospinal fluid is a technique that may provide an alternative method for diagnosis. Prior case reports and studies have shown a correlation between PCNSL and MYD88 mutation, but patients were treated only in the setting of a diagnostic biopsy. Here we present a case of a patient with inconclusive biopsy results whose CSF ctDNA revealed a MYD88 mutation suggestive of PCNSL and guided her treatment with high-dose methotrexate. © 2021 The Author(s). Published by Oxford University Press, the Society for Neuro-Oncology and the European Association of Neuro-Oncology.
Journal Title: Neuro-Oncology Advances
Volume: 3
Issue: 1
ISSN: 2632-2498
Publisher: Oxford University Press  
Date Published: 2021-01-01
Language: English
DOI: 10.1093/noajnl/vdab143
PROVIDER: scopus
PMCID: PMC8557694
PUBMED: 34729485
DOI/URL:
Notes: Article -- Export Date: 1 April 2022 -- Source: Scopus
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MSK Authors
  1. Christian Grommes
    150 Grommes
  2. Rachna Malani
    38 Malani
  3. Ankush Bhatia
    18 Bhatia
  4. Tejus Bale
    122 Bale
  5. Ka-Wai Grace Ho
    6 Ho