title: Multicentric atypical teratoid/rhabdoid tumors occurring in the eye and fourth ventricle of an infant: case report.
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.
authors.affiliation: Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Mitsugu
authors.initials: M
authors.lastname: Fujita
authors.forename: Miho
authors.initials: M
authors.lastname: Sato
authors.forename: Makoto
authors.initials: M
authors.lastname: Nakamura
authors.forename: Kazuko
authors.initials: K
authors.lastname: Kudo
authors.forename: Tetsuro
authors.initials: T
authors.lastname: Nagasaka
authors.forename: Masaaki
authors.initials: M
authors.lastname: Mizuno
authors.forename: Emi
authors.initials: E
authors.lastname: Amano
authors.forename: Yoko
authors.initials: Y
authors.lastname: Okamoto
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Hotta
authors.forename: Hisashi
authors.initials: H
authors.lastname: Hatano
authors.forename: Norimoto
authors.initials: N
authors.lastname: Nakahara
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Wakabayashi
authors.forename: Jun
authors.initials: J
authors.lastname: Yoshida
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics; D016465:Bone Marrow Purging; D002551:Cerebral Ventricle Neoplasms / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D017024:Chemotherapy, Adjuvant; D002868:Chromosomal Proteins, Non-Histone; D003062:Codon / Q000235:genetics; D003131:Combined Modality Therapy; D004268:DNA-Binding Proteins / Q000235:genetics; D018450:Disease Progression; D005123:Eye / Q000473:pathology; D015353:Eye Enucleation; D005134:Eye Neoplasms / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D005500:Follow-Up Studies; D020546:Fourth Ventricle / Q000473:pathology / Q000601:surgery*; D018095:Germ-Line Mutation; D006801:Humans; D007231:Infant, Newborn; D007381:Intermediate Filament Proteins / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D033401:Microscopy, Acoustic; D020125:Mutation, Missense / Q000235:genetics; D009378:Neoplasms, Multiple Primary / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D009419:Nerve Tissue Proteins / Q000235:genetics; D064231:Nestin; D016601:RNA-Binding Proteins / Q000235:genetics; D018335:Rhabdoid Tumor / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D000071796:SMARCB1 Protein; D033581:Stem Cell Transplantation; D013724:Teratoma / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D014157:Transcription Factors
chemical_list: D014408:Biomarkers, Tumor; D002868:Chromosomal Proteins, Non-Histone; D003062:Codon; D004268:DNA-Binding Proteins; D007381:Intermediate Filament Proteins; C491297:MSI1 protein, human; C577484:NES protein, human; D009419:Nerve Tissue Proteins; D064231:Nestin; D016601:RNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors