Identifying Molecular Markers for the Sensitive Detection of Residual AT/RT Cells

Background: AT/RT has specific molecular features, which may serve as molecular markers for residual tumor cell detection in liquid biopsies. We evaluated a proof-of-principle method to detect residual AT/RT cells. Patients and methods: A total of 7/150 patients were selected, each molecular genetically diagnosed with AT/RT. Germline mutations were excluded. Tumor samples were FFPE. DNA was extracted from the patients' PBL and CSF. MLPA, PCR and sequencing were used to identify the tumor's mutations. Residual tumor cell search used mutation specific primers and real-time PCR. Results: The detection limit for res…