SMARCB1/INI1 missense mutation in mucinous carcinoma with rhabdoid features
β Scribed by Yong Mee Cho; Jene Choi; Ok-Jun Lee; Hyang-Im Lee; Duck Jong Han; Jae Y. Ro
- Book ID
- 115175716
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 337 KB
- Volume
- 56
- Category
- Article
- ISSN
- 1320-5463
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π SIMILAR VOLUMES
## Abstract We describe a neonate who had a rare tumor combination of a malignant rhabdoid tumor of the kidney (MRTK) and a brain primitive neuroectodermal tumor (PNET). Genetic alterations of the __SNF5/INI1/SMARCB1__ gene were investigated by PCRβsingleβstrand conformation polymorphism (SSCP), lo
We describe a four-month-old child who presented with an atypical teratoid/rhabdoid tumor of the brain and subsequently developed a renal rhabdoid tumor. Distinct histologic features, immunophenotypic profiles, and deletions of chromosome 22 were supportive of two primary tumors. An identical mutati