期刊
PEDIATRIC BLOOD & CANCER
卷 65, 期 7, 页码 -出版社
WILEY
DOI: 10.1002/pbc.27030
关键词
malignant progression; NRAS mutation; peripheral nerve sheath tumor; rhabdoid tumor predisposition syndrome
资金
- NIH Clinical Center [CA21765]
Malignant progression of a benign or low-grade tumor in individuals with germline alteration of SMARCB1 gene is not well characterized. In a family in which two carrier children had germline SMARCB1 mutations and atypical teratoid rhabdoid tumor, we report malignant progression of a nerve sheath tumor over a 7-year period in an affected adult family member. Prompt identification of the germline SMARCB1 alteration and the resultant rhabdoid tumor predisposition syndrome can help guide genetic counseling and surveillance in affected family members.
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