TY - JOUR
T1 - Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome
AU - Jackson, Eric M.
AU - Shaikh, Tamim H.
AU - Zhang, Fan
AU - Wainwright, Luanne M.
AU - Storm, Phillip B.
AU - Hakonarson, Hakon
AU - Zackai, Elaine H.
AU - Biegel, Jaclyn A.
PY - 2007/8/1
Y1 - 2007/8/1
N2 - 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.
AB - 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.
KW - Beckwith-Wiedemann syndrome
KW - INI1/hSNF5/SMARCB1/BAF47
KW - Rhabdoid tumor
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UR - http://www.scopus.com/inward/citedby.url?scp=34547665402&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.31843
DO - 10.1002/ajmg.a.31843
M3 - Article
C2 - 17603804
AN - SCOPUS:34547665402
SN - 1552-4825
VL - 143
SP - 1767
EP - 1770
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 15
ER -