[Atypical teratoid and rhabdoid tumor. Report of a congenital case].

Abstract

The atypical teratoid rhabdoid tumor is a rare brain tumor of childhood. We report a congenital case, revealed by peripheral facial palsy. This polymorphous tumor consisted of rhabdoid cells associated with areas of primitive neuroectodermal tumor. The immunoreactivity for the three proteins vimentin, epithelial membrane antigen and smooth-muscle actin was suggestive of rhabdoid tumor. Genetic study showed a homozygous mutation in the tumoral DNA and a constitutional heterozygous mutation, as it was demonstrated in atypical teratoid rhabdoid tumors and in renal and extra-renal rhabdoid tumors.

• Authors: C Fernandez, N Sévenet, C Bouvier-Labit, G Lena, D Figarella-Branger
• Journal: Annales de pathologie (Ann Pathol) Vol. 21 Issue 3 Pg. 259-62 (Jun 2001) ISSN: 0242-6498 [Print] France
• Vernacular Title: Tumeur rhabdoïde et tératoïde atypique. A propos d'un cas congénital.
• PMID: 11468564 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Actins
• DNA, Neoplasm
• Mucin-1
• Vimentin

Topics

• Actins (analysis)
• Brain Neoplasms (congenital, genetics, pathology)
• Child
• DNA, Neoplasm (genetics)
• Humans
• Immunohistochemistry
• Male
• Mucin-1 (analysis)
• Mutation
• Neoplasms, Multiple Primary (congenital, genetics, pathology)
• Neuroectodermal Tumors, Primitive (pathology)
• Rhabdoid Tumor (congenital, genetics, pathology)
• Teratoma (congenital, genetics, pathology)
• Vimentin (analysis)