Multicentric atypical teratoid/rhabdoid tumors occurring in the eye and fourth ventricle of an infant: case report

J Neurosurg. 2005 Apr;102(3 Suppl):299-302. doi: 10.3171/ped.2005.102.3.0299.

Abstract

Atypical teratoid/rhabdoid tumors (AT/RTs) are aggressive malignant tumors found in infants and young children. The tumor is characterized by the presence of a rhabdoid cell component in all cases, but the histological origin is still unclear. Recently, germline mutation of the hSNF5/INI1 gene has been reported in association with AT/RTs. The authors report a rare case of an intraocular AT/RT followed by a fourth ventricular tumor. The results of immunohistochemical studies of the surgical specimens revealed the presence of an AT/RT and from this finding the neural origin was inferred. A novel missense mutation of the hSNF5/INI1 gene was demonstrated by DNA analysis. High-dose chemotherapy with stem cell rescue was effective in treating this patient. The immunohistochemical relationship between rhabdoid cells and the neurogenic zone, which has not been described in AT/RTs, is of great interest in view of the nature of rhabdoid cells.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Biomarkers, Tumor / analysis
  • Biomarkers, Tumor / genetics
  • Bone Marrow Purging
  • Cerebral Ventricle Neoplasms / drug therapy
  • Cerebral Ventricle Neoplasms / genetics
  • Cerebral Ventricle Neoplasms / pathology
  • Cerebral Ventricle Neoplasms / surgery*
  • Chemotherapy, Adjuvant
  • Chromosomal Proteins, Non-Histone
  • Codon / genetics
  • Combined Modality Therapy
  • DNA-Binding Proteins / genetics
  • Disease Progression
  • Eye / pathology
  • Eye Enucleation
  • Eye Neoplasms / drug therapy
  • Eye Neoplasms / genetics
  • Eye Neoplasms / pathology
  • Eye Neoplasms / surgery*
  • Follow-Up Studies
  • Fourth Ventricle / pathology
  • Fourth Ventricle / surgery*
  • Germ-Line Mutation
  • Humans
  • Infant, Newborn
  • Intermediate Filament Proteins / genetics
  • Magnetic Resonance Imaging
  • Male
  • Microscopy, Acoustic
  • Mutation, Missense / genetics
  • Neoplasms, Multiple Primary / drug therapy
  • Neoplasms, Multiple Primary / genetics
  • Neoplasms, Multiple Primary / pathology
  • Neoplasms, Multiple Primary / surgery*
  • Nerve Tissue Proteins / genetics
  • Nestin
  • RNA-Binding Proteins / genetics
  • Rhabdoid Tumor / drug therapy
  • Rhabdoid Tumor / genetics
  • Rhabdoid Tumor / pathology
  • Rhabdoid Tumor / surgery*
  • SMARCB1 Protein
  • Stem Cell Transplantation
  • Teratoma / drug therapy
  • Teratoma / genetics
  • Teratoma / pathology
  • Teratoma / surgery*
  • Transcription Factors

Substances

  • Biomarkers, Tumor
  • Chromosomal Proteins, Non-Histone
  • Codon
  • DNA-Binding Proteins
  • Intermediate Filament Proteins
  • MSI1 protein, human
  • NES protein, human
  • Nerve Tissue Proteins
  • Nestin
  • RNA-Binding Proteins
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • Transcription Factors