Liquid Biopsy Lab Hirntumore

Liquid biopsies with molecular analyses on CSF (cerebrospinal fluid) and blood are gaining increasing value in the diagnosis of brain tumours and their follow-up. In Heidelberg’s “Liquid Biopsy Lab Hirntumore”, we perform these genetic analyses for research purposes as well as in the clinical routine, in close collaboration with the Neuropathology department.

Sampling CSF through lumbar puncture is a minimally invasive way to gain important information on tumour genetics. A panel of about 200 genes relevant for brain tumours is performed on cell-free DNA from CSF, allowing to detect specific mutations that can lead to the molecular diagnosis of a brain tumour (Iser et al. 2024). Additionally, this method allows for a minimally invasive evaluation of tumour activity. The results are discussed in a multidisciplinary “Neuro Liquid Biopsy Board”. Currently, about 150-200 patient samples are analysed per year.

Scientifically, the technique is being developed further through clinical trials, additionally to specific clinical and scientific questions. In this context, nanopore sequencing and mass-spectrometry proteomics analyses may also be performed.

References:

Iser F, Hinz F, Hoffmann DC, et al. Cerebrospinal Fluid cfDNA Sequencing for Classification of Central Nervous System Glioma. Clin Cancer Res. 2024;30(14):2974-2985. doi:10.1158/1078-0432.CCR-23-2907

SENDING SAMPLES

For good sample quality, the CSF must be centrifuged rapidly after the puncture, and the supernatant separated from the cells. An EDTA-blood sample is also needed for comparison with the germline. For details on sampling and preparation, please see below (Einsender_SOP_extern_ENG und SOP_csf_Biobanking_extern_ENG).

The CSF should be collected in a cell-free DNA tube (e.g. Streck) for better sample quality. These may be provided by Heidelberg’s “Liquid Biopsy Lab Hirntumore”. Should this not be possible, the sample must be centrifuged as quickly as possible. The shipment must be done on dry ice if no cfDNA tube was used, and preferentially so if a cfDNA tube was used.

FORMULARS

Below are the documents you will need to send us your samples (English/French)

• Checklist, to make sure that you did not forget anything (ENG) 
  (FRENCH)
• Sender_SOP: detailed explanation and requirements for sampling and shipment (ENG)
  FRENCH
• Request form: please send the filled-out form with the sample (ENG)
  (FRENCH)[FE8]
• Preparation instructions for your laboratory (ENG)
  (FRENCH)