eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | rhabdoid tumor |
| Comorbidity | C1261473|sarcomas |
| Sentences | 1 |
| PubMedID- 21084242 | Demonstration of these mutations is useful for the diagnosis of cd117 negative gist, for predicting response to imatinib and to explain secondary resistance to imatinib ; 4) sarcomas with inactivating mutations: malignant rhabdoid tumors show biallelic inactivation of ini1 gene with a lost of ini1 expression which can be demonstrated by immunohistochemistry ; 5) other sarcomas usually show a complex genomic profile characterised by numerous gains and losses of genes with a frequent loss of rb1 and alterations of p53. |
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