Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome.
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.
Jackson
Eric M
EM
Department of Neurosurgery, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.
Shaikh
Tamim H
TH
Zhang
Fan
F
Wainwright
Luanne M
LM
Storm
Phillip B
PB
Hakonarson
Hakon
H
Zackai
Elaine H
EH
Biegel
Jaclyn A
JA
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