title: Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome.
abstract: Beckwith-Wiedemann syndrome (BWS) is a genetic disorder associated with an increased risk of childhood tumors. Here we describe a patient with BWS who developed a central nervous system atypical teratoid/rhabdoid tumor (AT/RT). To our knowledge, despite the known cancer predisposition, this patient is the first described with BWS to develop an AT/RT. Due to the high propensity of these patients to develop childhood tumors, in addition to routine diagnostic tests, analysis of the tumor DNA using the Illumina Infinium whole-genome genotyping 550K Beadchip was performed to investigate a possible common underlying mechanism for his BWS and AT/RT. The only alteration detected was monosomy 22, which was accompanied by a somatic mutation in the INI1 rhabdoid tumor gene. These results suggest that, despite an underlying cancer predisposition, the occurrence of BWS and AT/RT in this patient may be unrelated.
authors.affiliation: Department of Neurosurgery, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.
authors.forename: Eric M
authors.initials: EM
authors.lastname: Jackson
authors.forename: Tamim H
authors.initials: TH
authors.lastname: Shaikh
authors.forename: Fan
authors.initials: F
authors.lastname: Zhang
authors.forename: Luanne M
authors.initials: LM
authors.lastname: Wainwright
authors.forename: Phillip B
authors.initials: PB
authors.lastname: Storm
authors.forename: Hakon
authors.initials: H
authors.lastname: Hakonarson
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Jaclyn A
authors.initials: JA
authors.lastname: Biegel
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000150:complications / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D018335:Rhabdoid Tumor / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D013724:Teratoma / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome