|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
3 Suppl
|
|
pubmed:dateCreated |
2005-5-9
|
|
pubmed:abstractText |
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.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Chromosomal Proteins, Non-Histone,
http://linkedlifedata.com/resource/pubmed/chemical/Codon,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Intermediate Filament Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/MSI1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/RNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/SMARCB1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors,
http://linkedlifedata.com/resource/pubmed/chemical/Tumor Markers, Biological,
http://linkedlifedata.com/resource/pubmed/chemical/nestin
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Apr
|
|
pubmed:issn |
0022-3085
|
|
pubmed:author |
pubmed-author:AmanoEmiE,
pubmed-author:FujitaMitsuguM,
pubmed-author:HatanoHisashiH,
pubmed-author:HottaYoshihiroY,
pubmed-author:KudoKazukoK,
pubmed-author:MizunoMasaakiM,
pubmed-author:NagasakaTetsuroT,
pubmed-author:NakaharaNorimotoN,
pubmed-author:NakamuraMakotoM,
pubmed-author:OkamotoYokoY,
pubmed-author:SatoMihoM,
pubmed-author:WakabayashiToshihikoT,
pubmed-author:YoshidaJunJ
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
102
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
299-302
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:15881754-Antineoplastic Combined Chemotherapy Protocols,
pubmed-meshheading:15881754-Bone Marrow Purging,
pubmed-meshheading:15881754-Cerebral Ventricle Neoplasms,
pubmed-meshheading:15881754-Chemotherapy, Adjuvant,
pubmed-meshheading:15881754-Chromosomal Proteins, Non-Histone,
pubmed-meshheading:15881754-Codon,
pubmed-meshheading:15881754-Combined Modality Therapy,
pubmed-meshheading:15881754-DNA-Binding Proteins,
pubmed-meshheading:15881754-Disease Progression,
pubmed-meshheading:15881754-Eye,
pubmed-meshheading:15881754-Eye Enucleation,
pubmed-meshheading:15881754-Eye Neoplasms,
pubmed-meshheading:15881754-Follow-Up Studies,
pubmed-meshheading:15881754-Fourth Ventricle,
pubmed-meshheading:15881754-Germ-Line Mutation,
pubmed-meshheading:15881754-Humans,
pubmed-meshheading:15881754-Infant, Newborn,
pubmed-meshheading:15881754-Intermediate Filament Proteins,
pubmed-meshheading:15881754-Magnetic Resonance Imaging,
pubmed-meshheading:15881754-Male,
pubmed-meshheading:15881754-Microscopy, Acoustic,
pubmed-meshheading:15881754-Mutation, Missense,
pubmed-meshheading:15881754-Neoplasms, Multiple Primary,
pubmed-meshheading:15881754-Nerve Tissue Proteins,
pubmed-meshheading:15881754-RNA-Binding Proteins,
pubmed-meshheading:15881754-Rhabdoid Tumor,
pubmed-meshheading:15881754-Stem Cell Transplantation,
pubmed-meshheading:15881754-Teratoma,
pubmed-meshheading:15881754-Transcription Factors,
pubmed-meshheading:15881754-Tumor Markers, Biological
|
|
pubmed:year |
2005
|
|
pubmed:articleTitle |
Multicentric atypical teratoid/rhabdoid tumors occurring in the eye and fourth ventricle of an infant: case report.
|
|
pubmed:affiliation |
Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
|
|
pubmed:publicationType |
Journal Article,
Case Reports
|
