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• W2022341175 abstract "Malignant rhabdoid tumor has traditionally been defined by its histologic phenotype. However, genetic investigations of malignant rhabdoid tumor have revealed a characteristic loss of or mutation in the INI1 gene on chromosome 22q. The occurrence and significance of soft tissue tumors meeting genetic criteria for malignant rhabdoid tumor but with an undifferentiated non-rhabdoid histology is poorly characterized. Seventeen undifferentiated sarcomas, lacking rhabdoid histology were identified either through the surgical pathology files of The Children's Hospital of Philadelphia (1980-2005) or in consultation. Immunohistochemistry for the INI1 protein showed a loss of nuclear expression within tumor cells in five of these cases. On histologic review, these five tumors had a featureless sheet-like architecture; four were small round blue cell tumors, and one showed focal spindling. Although they had variably prominent nucleoli, classic rhabdoid morphologic features were not identified in any of these cases at primary presentation. Additional immunohistochemistry showed a polyphenotypic profile. Four of the five tumors showed genetic abnormalities involving the INI1 gene by a combination of fluorescent in situ hybridization, reverse transcription-polymerase chain reaction, and/or mutational analysis. Patient ages ranged from 1 week to 5 years. Four patients were male, and one was female. Sites included two neck tumors, two extremity tumors, and one paraspinal tumor. Two patients are alive and well over 15 years from the time of diagnosis; the remaining four are alive and well but with less than 2 years follow-up. Thus, alterations of the INI1 gene with consequent loss of expression identified a population of undifferentiated sarcomas lacking classic rhabdoid morphology in young patients, with evidence of favorable survival. Whether these undifferentiated sarcomas represent a clinicopathologic entity distinct from classic malignant rhabdoid tumor requires further investigation." @default.
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• W2022341175 date "2009-01-01" @default.
• W2022341175 modified "2023-10-10" @default.
• W2022341175 title "Loss of INI1 expression defines a unique subset of pediatric undifferentiated soft tissue sarcomas" @default.
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• W2022341175 doi "https://doi.org/10.1038/modpathol.2008.185" @default.
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