{"id":16463,"date":"2019-03-01T10:22:39","date_gmt":"2019-03-01T09:22:39","guid":{"rendered":"https:\/\/genomik-tuebingen.de\/?p=16463"},"modified":"2025-03-12T10:09:02","modified_gmt":"2025-03-12T09:09:02","slug":"molecular-tumor-analysis-and-liquid-biopsy-a-feasibility-investigation-analyzing-circulating-tumor-dna-in-patients-with-central-nervous-system-lymphomas","status":"publish","type":"post","link":"https:\/\/cegat.com\/de\/molecular-tumor-analysis-and-liquid-biopsy-a-feasibility-investigation-analyzing-circulating-tumor-dna-in-patients-with-central-nervous-system-lymphomas\/","title":{"rendered":"Molecular tumor analysis and liquid biopsy: a feasibility investigation analyzing circulating tumor DNA in patients with central nervous system lymphomas."},"content":{"rendered":"

Hickmann AK1,2<\/sup>, Frick M3<\/sup>, Hadaschik D3<\/sup>, Battke F3<\/sup>, Bittl M4<\/sup>, Ganslandt O4<\/sup>, Biskup S3,5,6<\/sup>, D\u00f6cker D3,6<\/sup>.<\/p>\n<\/div><\/div><\/div><\/div><\/div>

Abstract<\/h2><\/div><\/div><\/div>

Background:
\nCentral nervous system lymphomas (CNSL) is a devastating disease. Currently, a confirmatory biopsy is required prior to treatment.<\/p>\n

Objective:
\nOur investigation aims to prove the feasibility of a minimally-invasive diagnostic approach for the molecular characterization of CNSL.<\/p>\n

Methods:
\nTissue biopsies from 6 patients with suspected CNSL were analyzed using a 649gene next-generation sequencing (NGS) tumor panel (tumor vs. reference tissue (EDTA blood). The individual somatic mutation pattern was used as a basis for the digital PCR analyzing circulating tumor DNA (ctDNA) from plasma and cerebrospinal fluid (CSF) samples, identifying one selected tumor mutation during this first step of the feasibility investigation.<\/p>\n

Results:
\nNGS-analysis of biopsy tissue revealed a specific somatic mutation pattern in all confirmed lymphoma samples (n\u2009=\u20095, NGS-sensitivity 100%) and none in the sample identified as normal brain tissue (NGS-specificity 100%). cfDNA-extraction was dependent on the extraction-kit used and feasible in 3 samples, in all of which somatic mutations were detectable (100%). Analysis of CSF-derived cfDNA was superior to plasma-derived cfDNA and routine microscopic analysis (lymphoma cells: n\u2009=\u20092, 40%). One patient showed a divergent molecular pattern, typical of Burkitt-Lymphoma (HIV+, serologic evidence of EBV-infection). Lumbar puncture was tolerated without complications, whereas biopsy caused 3 hemorrhages.<\/p>\n

Conclusions:
\nOur investigation provides evidence that analysis of cfDNA in central nervous system tumors is feasible using the described protocol. Molecular characterization of CNSL could be achieved by analysis of CSF-derived cfDNA. Knowledge of a tumor\u2019s specific mutation pattern may allow initiation of targeted therapies, treatment surveillance and could lead to minimally-invasive diagnostics in the future.<\/p>\n<\/div><\/div><\/div><\/div><\/div>