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Pediatric embryonal tumor with epithelial immunophenotype showing absence of hSNF5/INI1 expression

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Abstract

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.

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Authors and Affiliations

  1. Department of Neurosurgery, Shinshu University School of Medicine, Asahi 3-1-1, Matsumoto 390-8621, Japan

    Keiichi Sakai, Kazuhiro Hongo & Shigeaki Kobayashi

  2. Department of Neurosurgery, Nagano Children’s Hospital, Toyoshina, Japan

    Hiroaki Shigeta

  3. Division of Clinical Pathology, Nagano Children’s Hospital, Toyoshina, Japan

    Yoshifumi Ogiso

  4. Department of Pathology, Saitama Medical School, Saitama, Japan

    Takanori Hirose

Authors
  1. Keiichi Sakai
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  2. Hiroaki Shigeta
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  3. Yoshifumi Ogiso
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  4. Kazuhiro Hongo
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  5. Shigeaki Kobayashi
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  6. Takanori Hirose
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Correspondence to Keiichi Sakai.

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Sakai, K., Shigeta, H., Ogiso, Y. et al. Pediatric embryonal tumor with epithelial immunophenotype showing absence of hSNF5/INI1 expression. Childs Nerv Syst 21, 150–155 (2005). https://doi.org/10.1007/s00381-004-0975-6

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  • DOI: https://doi.org/10.1007/s00381-004-0975-6

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