Imaging findings in primary intracranial atypical teratoid/rhabdoid tumors
β Scribed by Hemant Parmar; Cynthia Hawkins; Eric Bouffet; James Rutka; Manohar Shroff
- Publisher
- Springer-Verlag
- Year
- 2005
- Tongue
- English
- Weight
- 402 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0301-0449
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## Abstract The __SMARCB1__ gene status in 50 patients with atypical teratoid rhabdoid tumor and/or malignant rhabdoid tumor recruited to a German registry was prospectively analyzed with FISH and PCR. Altogether we found 40 __SMARCB1__ mutations in 28 patients. Two patients were positive for SMARC
## Abstract BeckwithβWiedemann 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,