Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome

Eric M. Jackson, Tamim H. Shaikh, Fan Zhang, Luanne M. Wainwright, Phillip B. Storm, Hakon Hakonarson, Elaine H. Zackai, Jaclyn A. Biegel

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1767-1770
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number15
StatePublished - Aug 1 2007
Externally publishedYes


  • Beckwith-Wiedemann syndrome
  • Rhabdoid tumor

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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