Clinical applicability of miR517a detection in liquid biopsies of ETMR patients

Madlener, Sibylle; Furtner, Julia; Stepien, Natalia; Senfter, Daniel; Mayr, Lisa; Zeyda, Maximilian; Gramss, Leon; Aistleitner, Barbara; Spiegl-Kreinecker, Sabine; Rivelles, Elisa; Dorfer, Christian; Rössler, Karl; Czech, Thomas; Azizi, Amedeo A.; Peyrl, Andreas; Lötsch-Gojo, Daniela; Müllauer, Leonhard; Haberler, Christine; Slavc, Irene; Gojo, Johannes

doi:10.1007/s00401-023-02567-z

Cited by 1 publication

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“…We and others have already demonstrated the applicability of LB in various pediatric brain tumor types [14,[20][21][22], including our study on the monitoring of disease burden by NRAS detection in CSF samples of a patient with primary diffuse leptomeningeal melanomatosis [2]. Within this study, we found that the defining molecular alteration was better-detectable in CSF than in the biopsy tissue, highlighting the sensitivity of this method.…”

Section: Introductionsupporting

confidence: 56%

“…Therefore, the possibility of detection of MYC amplification in blood needs further evaluation, and the present evidence clearly demonstrates the superiority of CSF for the detection and quantification of MYC amplification. The optimal source of biofluids for CNS tumor monitoring is still under discussion [20,25]. Keeping in mind the invasiveness of obtaining CSF, compared to blood or urine, the primary goal of LB development would be diagnosis and disease monitoring from urine, or secondary blood.…”

Section: Discussionmentioning

confidence: 99%

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Proof-of-Concept for Liquid Biopsy Disease Monitoring of MYC-Amplified Group 3 Medulloblastoma by Droplet Digital PCR

Stepien

Senfter

Furtner

et al. 2023

Cancers

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Background: Liquid biopsy diagnostic methods are an emerging complementary tool to imaging and pathology techniques across various cancer types. However, there is still no established method for the detection of molecular alterations and disease monitoring in MB, the most common malignant CNS tumor in the pediatric population. In the presented study, we investigated droplet digital polymerase chain reaction (ddPCR) as a highly sensitive method for the detection of MYC amplification in bodily fluids of group 3 MB patients. Methods: We identified a cohort of five MYC-amplified MBs by methylation array and FISH. Predesigned and wet-lab validated probes for ddPCR were used to establish the detection method and were validated in two MYC-amplified MB cell lines as well as tumor tissue of the MYC-amplified cohort. Finally, a total of 49 longitudinal CSF samples were analyzed at multiple timepoints during the course of the disease. Results: Detection of MYC amplification by ddPCR in CSF showed a sensitivity and specificity of 90% and 100%, respectively. We observed a steep increase in amplification rate (AR) at disease progression in 3/5 cases. ddPCR was proven to be more sensitive than cytology for the detection of residual disease. In contrast to CSF, MYC amplification was not detectable by ddPCR in blood samples. Conclusions: ddPCR proves to be a sensitive and specific method for the detection of MYC amplification in the CSF of MB patients. These results warrant implementation of liquid biopsy in future prospective clinical trials to validate the potential for improved diagnosis, disease staging and monitoring.

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