scholarly journals A pilot study on the use of cerebrospinal fluid cell-free DNA in intramedullary spinal ependymoma

2017 ◽  
Vol 135 (1) ◽  
pp. 29-36 ◽  
Author(s):  
Ian David Connolly ◽  
Yingmei Li ◽  
Wenying Pan ◽  
Eli Johnson ◽  
Linya You ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Pilot Study ◽  
Cell Free Dna ◽  
Spinal Ependymoma ◽  
Free Dna ◽  
Fluid Cell

scholarly journals Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Zimeng Ye ◽  
Zac Chatterton ◽  
Jahnvi Pflueger ◽  
John A Damiano ◽  
Lara McQuillan ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Liquid Biopsy ◽  
Somatic Mutations ◽  
Somatic Mosaicism ◽  
Autism Spectrum ◽  
Brain Diseases ◽  
Cell Free Dna ◽  
Free Dna ◽  
Subcortical Band Heterotopia ◽  
Fluid Cell

Abstract Brain somatic mutations are an increasingly recognized cause of epilepsy, brain malformations and autism spectrum disorders and may be a hidden cause of other neurodevelopmental and neurodegenerative disorders. At present, brain mosaicism can be detected only in the rare situations of autopsy or brain biopsy. Liquid biopsy using cell-free DNA derived from cerebrospinal fluid has detected somatic mutations in malignant brain tumours. Here, we asked if cerebrospinal fluid liquid biopsy can be used to detect somatic mosaicism in non-malignant brain diseases. First, we reliably quantified cerebrospinal fluid cell-free DNA in 28 patients with focal epilepsy and 28 controls using droplet digital PCR. Then, in three patients we identified somatic mutations in cerebrospinal fluid: in one patient with subcortical band heterotopia the LIS1 p. Lys64* variant at 9.4% frequency; in a second patient with focal cortical dysplasia the TSC1 p. Phe581His*6 variant at 7.8% frequency; and in a third patient with ganglioglioma the BRAF p. Val600Glu variant at 3.2% frequency. To determine if cerebrospinal fluid cell-free DNA was brain-derived, whole-genome bisulphite sequencing was performed and brain-specific DNA methylation patterns were found to be significantly enriched (P = 0.03). Our proof of principle study shows that cerebrospinal fluid liquid biopsy is valuable in investigating mosaic neurological disorders where brain tissue is unavailable.

scholarly journals Clinical Utility of Cerebrospinal Fluid Cell-Free DNA as Liquid Biopsy for Leptomeningeal Metastases in ALK-Rearranged NSCLC

2019 ◽  
Vol 14 (5) ◽  
pp. 924-932 ◽  
Author(s):  
Mei-Mei Zheng ◽  
Yang-Si Li ◽  
Ben-Yuan Jiang ◽  
Hai-Yan Tu ◽  
Wen-Fang Tang ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Liquid Biopsy ◽  
Clinical Utility ◽  
Leptomeningeal Metastases ◽  
Cell Free Dna ◽  
Free Dna ◽  
Fluid Cell

Utility of Cerebrospinal Fluid Cell-Free DNA in Patients with EGFR-Mutant Non-Small-Cell Lung Cancer with Leptomeningeal Metastasis

2021 ◽  
Vol 16 (2) ◽  
pp. 207-214
Author(s):  
Chi-Lu Chiang ◽  
Cheng-Chia Lee ◽  
Hsu-Ching Huang ◽  
Chia-Hung Wu ◽  
Yi-Chen Yeh ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Cerebrospinal Fluid ◽  
Small Cell Lung Cancer ◽  
Cell Lung Cancer ◽  
Leptomeningeal Metastasis ◽  
Small Cell ◽  
Small Cell Lung ◽  
Free Dna ◽  
Egfr Mutant ◽  
Fluid Cell

scholarly journals Children's Cortisol and Cell-Free DNA Trajectories in Relation to Sedentary Behavior and Physical Activity in School: A Pilot Study

2019 ◽  
Vol 7 ◽  
Author(s):  
Christoph Becker ◽  
Sebastian Schmidt ◽  
Elmo W. I. Neuberger ◽  
Peter Kirsch ◽  
Perikles Simon ◽  
...  
Keyword(s):  
Physical Activity ◽  
Pilot Study ◽  
Sedentary Behavior ◽  
Cell Free Dna ◽  
Free Dna
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