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

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

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)1767-1770
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number15
DOIs
StatePublished - Aug 1 2007
Externally publishedYes

Fingerprint

Beckwith-Wiedemann Syndrome
Neoplasms
Rhabdoid Tumor
Monosomy
Inborn Genetic Diseases
Routine Diagnostic Tests
Central Nervous System
Atypical Teratoid Tumor
Typical Teratoid Rhabdoid Tumor
Genome
Mutation
DNA
Genes

Keywords

  • Beckwith-Wiedemann syndrome
  • INI1/hSNF5/SMARCB1/BAF47
  • Rhabdoid tumor

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Jackson, E., Shaikh, T. H., Zhang, F., Wainwright, L. M., Storm, P. B., Hakonarson, H., ... Biegel, J. A. (2007). Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. American Journal of Medical Genetics, Part A, 143(15), 1767-1770. https://doi.org/10.1002/ajmg.a.31843

Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. / Jackson, Eric; Shaikh, Tamim H.; Zhang, Fan; Wainwright, Luanne M.; Storm, Phillip B.; Hakonarson, Hakon; Zackai, Elaine H.; Biegel, Jaclyn A.

In: American Journal of Medical Genetics, Part A, Vol. 143, No. 15, 01.08.2007, p. 1767-1770.

Research output: Contribution to journalArticle

Jackson, E, Shaikh, TH, Zhang, F, Wainwright, LM, Storm, PB, Hakonarson, H, Zackai, EH & Biegel, JA 2007, 'Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome', American Journal of Medical Genetics, Part A, vol. 143, no. 15, pp. 1767-1770. https://doi.org/10.1002/ajmg.a.31843
Jackson, Eric ; Shaikh, Tamim H. ; Zhang, Fan ; Wainwright, Luanne M. ; Storm, Phillip B. ; Hakonarson, Hakon ; Zackai, Elaine H. ; Biegel, Jaclyn A. / Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. In: American Journal of Medical Genetics, Part A. 2007 ; Vol. 143, No. 15. pp. 1767-1770.
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