GENE-39. UNANTICIPATED GERMLINE CANCER SUSCEPTIBILITY MUTATIONS IDENTIFIED DURING ROUTINE NEXT GENERATION SEQUENCING OF PRIMARY CNS NEOPLASMS

摘要

INTRODUCTIONTumor genomic profiling is routinely performed on primary brain tumors to identify somatic mutations. Such testing may also identify clinically significant germline mutations. Several syndromes (neurofibromatosis, Li Fraumeni, Von Hippel Lindau and Turcot) are well known causes of primary CNS neoplasms but there is limited data on other germline cancer susceptibility mutations in CNS tumor patients. After a somatic mutation was unexpectedly found to be germline, we interrogated our database of somatic CNS tumor mutations.