2022 Volume 59 Issue 5 Pages 370-375
Although accurate diagnosis is an important aspect of treatment, the diagnosis of pediatric brain tumors is often difficult. The total number of patients with pediatric brain tumors is comparable to that of patients with pediatric leukemia; however, the numbers of patients by tumor types are small and the relevant experience of each institution is limited. Although molecular classification has become essential for the diagnosis and treatment of brain tumors, it is impossible to diagnose them within each institution. Therefore, centralized pathological diagnosis scheme is essential, through which diagnosis is made by several pathologists and molecular diagnosis of medulloblastoma or glioma is also performed. In addition, Comprehensive Genome Profiling, which has been covered by health insurance since 2019, provides meaningful information for patients with brain tumors. However, it is necessary to pay attention to when the examination should be performed, as it can be done only once under health insurance. To detect malignant transformation due to additional genetic abnormalities, it is recommended to test samples at the time of recurrence. However, specific patients including those with infantile glioma with the fusion gene NTRK should be examined at the time of onset of the disease. It has been known that there are cancer predisposition syndromes (e.g., Li-Fraumeni syndrome) among patients with pediatric brain tumors. In recent years, the number of cases identified as having cancer predisposition by cancer genome analysis has increased. Genetic counseling, tests among family members, and subsequent cancer screening plans for patients need to be closely coordinated in collaboration with clinical geneticists.