ATRT-02. AN INFANTILE PINEAL EMBRYONAL TUMOR SHOWING PATHOLOGICAL FEATURES OF A CNS GANGLIONEUROBLASTOMA IN ADDITION TO SMARCA4 MUTATIONS AND THE METHYLATION PROFILING OF AN ATYPICAL TERATOID/RHABDOID TUMOR

Abstract Embryonal central nervous system tumors require genetic and epigenetic molecular analyses for further classification owing to the pathological, clinical, heterogeneity among these tumors. Here, we report a case of an infantile pineal tumor showing pathological features CNS ganglioneuroblastoma; however, specimen also contained SMARCA4 mutations methylation signature that is close atypical teratoid/rhabdoid tumor. A 2-year-old girl was referred our hospital because headache dizziness presented with obstructive hydrocephalus. Radiologically, large calcification observed in mass on head CT. The patient underwent resection, diagnosis ganglioneuroblastoma at time. variety cells, including undifferentiated embryonal neurocytic ganglion cells embedded fibrillary matrix. has been well 5 years since they received multiagent chemotherapy local proton irradiation. Subsequent genome-wide DNA analysis revealed molecularly sonic-hedgehog pathway-activated Genetic alterations splicing region exons 10 34. This indicates approaches may facilitate elucidation clinical tumors, particularly appearance ganglioneuroblastomas.