CSF-ctDNA SMSEQ Analysis to Tailor the Treatment of a Patient with Brain Metastases: A Case Report

Wen-Tsung Huang1, Na-Mi Lu2, Wen-Yuan Hsu3

  • 1aDivision of Hematology-Oncology, Department of Internal Medicine, Chi Mei Medical Center, Liouying, Tainan City, Taiwan.

Insights

Cerebrospinal fluid (CSF) analysis of circulating tumor DNA (ctDNA) aids in monitoring brain metastases and personalizing cancer treatment. This approach, using CellMax SMSEQ technology, led to successful treatment adjustment and remission in a patient.

Area of Science:

  • Neuro-oncology
  • Molecular diagnostics
  • Cancer genomics

Background:

  • Brain metastases are the most common neurological complication in adult cancers, representing over half of all brain tumors.
  • Increasing incidence may be linked to advanced imaging detecting smaller lesions.
  • Serial assessment of brain malignancies is crucial for monitoring disease progression and tailoring therapies, especially with evolving targeted and immunotherapy regimens.

Observation:

  • Cerebrospinal fluid (CSF) is proposed as a valuable biological fluid for assessing central nervous system (CNS) malignancy.
  • CSF can supplement cytology by providing extensive tumor mutational profiling for personalized treatment.
  • A specific case highlights the utility of CSF-ctDNA analysis using CellMax SMSEQ technology.

Findings:

  • CSF-ctDNA analysis using CellMax SMSEQ technology identified actionable mutations.
  • This molecular information facilitated a crucial adjustment in the patient's therapeutic management.
  • The treatment adjustment resulted in the patient achieving clinical remission.

Implications:

  • CSF-ctDNA analysis offers a minimally invasive method for comprehensive assessment of brain metastases.
  • This technique supports personalized medicine by revealing tumor mutational profiles for targeted therapy selection.
  • Serial CSF analysis can significantly improve disease monitoring and treatment strategies for patients with brain metastases.

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