ArticleJournal of neuro-oncology2016
Tumor DNA in cerebral spinal fluid reflects clinical course in a patient with melanoma leptomeningeal brain metastases.
Article in Journal of neuro-oncology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
56 citing papers in PubMed, 3 syntheses or guidelines pooled it, 98 citations in OpenAlex.
- Pooled it
- Diagnostic value of circulating tumor DNA in molecular characterization of glioma: A meta-analysis.Medicine · 2020Pooled it
- Ventricular Cerebrospinal Fluid Sampling in Pediatric Diffuse Midline Glioma Patients: Institutional Experience and Review of the Literature.Frontiers in pediatrics · 2020Pooled it
- Outcomes and prognostic factors in melanoma patients with leptomeningeal disease: a retrospective cohort study.Melanoma research · 2026Article
- Melanoma leptomeningeal disease: Advances in diagnosis and emerging therapeutic strategies.World journal of experimental medicine · 2026Review
- Adaptive cohort design and LAT1 expression scale: study protocol for a Phase 2a trial of QBS72S in breast cancer brain metastases.BMC cancer · 2025Article
- Cerebral spinal fluid analyses and therapeutic implications for leptomeningeal metastatic disease.Journal of neuro-oncology · 2025Review
- Detection of Circulating Tumor DNA in Liquid Biopsy: Current Techniques and Potential Applications in Melanoma.International journal of molecular sciences · 2025Review
- Personalized therapy guided by longitudinal liquid biopsies for treatment of leptomeningeal disease from lung adenocarcinoma: A case report.Oncology letters · 2024Article
- Quantification of cerebrospinal fluid tumor DNA in lung cancer patients with suspected leptomeningeal carcinomatosis.NPJ precision oncology · 2024Article
- [Advances in Clinical Application of Cerebrospinal Fluid Circulating Tumor DNA in Leptomeningeal Metastasis of Non-small Cell Lung Cancer].Zhongguo fei ai za zhi = Chinese journal of lung cancer · 2024Review
- Clinical applications of cerebrospinal fluid liquid biopsies in central nervous system tumors.Translational oncology · 2024Article
- Leptomeningeal disease in melanoma: An update on the developments in pathophysiology and clinical care.Pigment cell & melanoma research · 2024Review
- Review
- The coming of age of liquid biopsy in neuro-oncology.Brain : a journal of neurology · 2023Article
- Diagnostic and Therapeutic Updates in Leptomeningeal Disease.Current oncology reports · 2023Review
- Phase I Study and Cell-Free DNA Analysis of T-DM1 and Metronomic Temozolomide for Secondary Prevention of HER2-Positive Breast Cancer Brain Metastases.Clinical cancer research : an official journal of the American Association for Cancer Research · 2023Article
- Exploring the role of cerebrospinal fluid as analyte in neurologic disorders.Future science OA · 2023Review
- Tapping into the genome: the role of CSF ctDNA liquid biopsy in glioma.Neuro-oncology advances · 2022Article
- Circulating tumour DNA - looking beyond the blood.Nature reviews. Clinical oncology · 2022Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Cerebral spinal fluid (CSF) from brain tumor patients contains tumor cellular and cell-free DNA (cfDNA), which provides a less-invasive and routinely accessible method to obtain tumor genomic information. In this report, we used droplet digital PCR to test mutant tumor DNA in CSF of a patient to monitor the treatment response of metastatic melanoma leptomeningeal disease (LMD). The primary melanoma was known to have a BRAF (V600E) mutation, and the patient was treated with whole brain radiotherapy and BRAF inhibitors. We collected 9 CSF samples over 6 months. The mutant cfDNA fraction gradually decreased from 53 % (time of diagnosis) to 0 (time of symptom alleviation) over the first 6 time points. Three months after clinical improvement, the patient returned with severe symptoms and the mutant cfDNA was again detected in CSF at high levels. The mutant DNA fraction corresponded well with the patient's clinical response. We used whole exome sequencing to examine the mutation profiles of the LMD tumor DNA in CSF before therapeutic response and after disease relapse, and discovered a canonical cancer mutation PTEN (R130*) at both time points. The cellular and cfDNA revealed similar mutation profiles, suggesting cfDNA is representative of LMD cells. This study demonstrates the potential of using cellular or cfDNA in CSF to monitor treatment response for LMD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.