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.
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.
Authors: N Sévenet; A Lellouch-Tubiana; D Schofield; K Hoang-Xuan; M Gessler; D Birnbaum; C Jeanpierre; A Jouvet; O Delattre Journal: Hum Mol Genet Date: 1999-12 Impact factor: 6.150
Authors: C J Guidi; A T Sands; B P Zambrowicz; T K Turner; D A Demers; W Webster; T W Smith; A N Imbalzano; S N Jones Journal: Mol Cell Biol Date: 2001-05 Impact factor: 4.272
Authors: Jaclyn A Biegel; Lu Tan; Fan Zhang; Luanne Wainwright; Pierre Russo; Lucy B Rorke Journal: Clin Cancer Res Date: 2002-11 Impact factor: 12.531
Authors: I Versteege; N Sévenet; J Lange; M F Rousseau-Merck; P Ambros; R Handgretinger; A Aurias; O Delattre Journal: Nature Date: 1998-07-09 Impact factor: 49.962