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[Teratoid/rhabdoid tumor of the central nervous system]
Insights
This study details two cases of aggressive infantile brain tumors, teratoid/rhabdoid tumors, in young children. Further research is needed to classify these rare neoplasms and understand their origins.
Area of Science:
- Pediatric Oncology
- Neuro-oncology
- Developmental Neurobiology
Background:
- Teratoid/rhabdoid tumors are aggressive infantile brain neoplasms with uncertain origins.
- These tumors present significant diagnostic and therapeutic challenges in pediatric neuro-oncology.
Observation:
- Two cases are presented: a 2-year-old boy with central fever and hemiparesis, and a 7-year-old girl with vomiting and headache.
- Histological examination revealed sheets of ovoid cells with specific nuclear and cytoplasmic features, including spindle-cell components and bone metaplasia in one case.
- Ultrastructural analysis showed whorls of intermediate filaments, and immunohistochemistry indicated a polyphenotypic expression profile.
Findings:
- Cytogenetic analysis in one case identified a chromosomal translocation involving 22q11.
- Immunohistochemical markers included epithelial membrane antigen, vimentin, and alpha-actin, with no evidence of germ cell origin.
- The teratoid/rhabdoid tumor exhibits characteristics overlapping with renal rhabdoid tumors, primitive neuroectodermal tumors, and germ cell neoplasms.
Implications:
- The overlapping features challenge the classification of teratoid/rhabdoid tumors as a distinct entity.
- Understanding the cellular origin and molecular drivers is crucial for developing targeted therapies.
- Further investigation is warranted to clarify the relationship between these tumors and other pediatric neoplasms.
Abstract:
Teratoid/rhabdoid tumor is a recently introduced infantile brain neoplasm of uncertain origin clinically characterized by a most aggressive course. We describe the case of a 2-year-old boy and a 7-year-old girl, the former presenting with central fever and hemiparesis, while vomiting and headache were symptoms in the latter. A brain tumor in the right fronto-parieto-occipital and the left fronto-medial parenchyma, respectively, were found and removed by surgery. On histology, both lesions consisted of sheets of ovoid cells with prominent cytoplasm, vesicular nuclei and macronucleoli. In the second case, a spindle-cell component and bone metaplasia were also noted. Ultrastructurally, tumor cells contained whorls of intermediate filaments. Immunohistochemistry revealed a polyphenotypic expression profile including positivity for epithelial membrane antigen, vimentin and a-actin. There was no evidence of a germ-cell origin. Chromosomal translocation involving 22q11 was established cytogenetically in the first case. The teratoid/rhabdoid tumor shares many common traits with renal rhabdoid tumors and primitive neuroectodermal tumors as well as germ cell neoplasms; therefore its being an entity is debated.