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Atypical teratoid/rhabdoid tumor in a patient with Beckwith–Wiedemann syndrome
Author(s) -
Jackson Eric M.,
Shaikh Tamim H.,
Zhang Fan,
Wainwright Luanne M.,
Storm Phillip B.,
Hakonarson Hakon,
Zackai Elaine H.,
Biegel Jaclyn A.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31843
Subject(s) - beckwith–wiedemann syndrome , medicine , pathology , biology , genetics , gene , gene expression , dna methylation
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. © 2007 Wiley‐Liss, Inc.