| Popis: |
Next-generation sequencing (NGS) panels, while typically used clinically to identify somatic tumor mutations to guide therapeutics, can identify possible germline mutations. Incidental identification of a cancer predisposition syndrome has psychosocial and management implications for the patient and family beyond routine oncology care. We implemented a pilot integrating a genetic counselor (GC) within a multidisciplinary brain tumor clinic to facilitate follow-up germline testing on at-risk patients based on tumor testing results and to develop a clinical process for paired tumor plus blood testing for suspected hereditary cancer predisposition syndromes. From November 2015 to present, 116 brain tumors underwent clinical targeted molecular tumor profiling. Testing identified 35 (30%) patients with possible germline variants based on results and family history. Of those, 16 patients have had follow-up germline testing coordinated to date; 8 patients tested positive for an inherited cancer predisposition syndrome (RAD51D, TP53 (2), BAP1, MSH2, SUFU (2), ATM). Five patients tested negative on follow-up germline testing. Two patients were previously identified to have Neurofibromatosis 1 and one patient was previously identified to have Neurofibromatosis 2. Paired tumor testing has been coordinated for two patients so far and identified a pathogenic germline TP53 variant in one patient and a likely pathogenic germline SUFU variant in the other. Molecular diagnostics are now standard for pediatric brain tumors, and an embedded GC can improve the coordination of care for children with brain tumors. Timely counseling and diagnosis of a hereditary cancer syndrome has important health care implications for both the patient and the family. |
