neoplasm
• malignant rhabdoid tumors develop with increased frequency (55%) and reduced latency (median, 4.9 months) compared to single Smarcb1 heterozygotes
• both soft tissue and CNS tumor frequencies increase (32% and 24%, respectively)
• 44% of malignant rhabdoid tumors are located around the roots or spinal nerves within the spinal cord, most frequently near the thoracolumbar junction with a median age of 5.2 months
• malignant rhabdoid tumors have a more than a 4-fold increase in mitotic index compared with single Smarcb1 heterozygotes
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• 100% penetrance of choroid plexus carcinomas, with a median latency of 9 months, similar to single Tg(LPV-TAg121)2Tvd mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
atypical teratoid rhabdoid tumor | DOID:2129 | J:120820 | ||
choroid plexus papilloma | DOID:2626 |
OMIM:260500 |
J:120820 |