title: Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor.
abstract: We describe a four-month-old child who presented with an atypical teratoid/rhabdoid tumor of the brain and subsequently developed a renal rhabdoid tumor. Distinct histologic features, immunophenotypic profiles, and deletions of chromosome 22 were supportive of two primary tumors. An identical mutation in exon 7 of the INI1 rhabdoid tumor suppressor gene was identified in both tumors, as well as in normal kidney tissue. We propose that this germline INI1 mutation predisposed the child to the development of both malignancies. These findings lend support to the hypothesis that rhabdoid tumors in all sites have a common genetic etiology.
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. biegel@mail.med.upenn.edu
authors.forename: J A
authors.initials: JA
authors.lastname: Biegel
authors.forename: B
authors.initials: B
authors.lastname: Fogelgren
authors.forename: L M
authors.initials: LM
authors.lastname: Wainwright
authors.forename: J Y
authors.initials: JY
authors.lastname: Zhou
authors.forename: H
authors.initials: H
authors.lastname: Bevan
authors.forename: L B
authors.initials: LB
authors.lastname: Rorke
mesh_terms: D016543:Central Nervous System Neoplasms / Q000235:genetics* / Q000473:pathology; D002868:Chromosomal Proteins, Non-Histone; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D017809:Fatal Outcome; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D019656:Loss of Heterozygosity; D008297:Male; D018335:Rhabdoid Tumor / Q000235:genetics* / Q000473:pathology; D000071796:SMARCB1 Protein; D013724:Teratoma / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors