Case report: A case of a histologically unclassified brain tumor in a 32-month-old boy is reported. He presented with vomiting, appetite loss, and right motor weakness. MR images revealed a huge mass in the left frontoparietal region that was enhanced after the administration of Gd-DTPA. The mass was removed three times because of its recurrence.
Results: Histologically, the tumor was composed largely of small-undifferentiated round cells without any patterns of differentiation. Immunohistochemically, the tumor cells were positive for cytokeratin and focally for epithelial membrane antigen (EMA). Glial fibrillary acidic protein (GFAP), S-100 protein and neuronal markers were negative. Electron microscopic investigations demonstrated no evidence of specific differentiation. MIB-1 staining index was 10-40%. The origin of the tumor was not detected. Expression of the hSNF5/INI1 of this tumor was not detected by reverse transcription-polymerase chain reaction (RT-PCR). The patient has been in a good condition for 7 years after the first operation.
Conclusions: Based on the immunohistochemical findings, the tumor was descriptively diagnosed as an embryonal tumor with an epithelial immunophenotype. The hSNF5/INI1 gene has recently been reported to act as a tumor suppressor in atypical teratoid/rhabdoid tumors. The hSNF5/INI1 gene may lead to tumorigenesis in this case.