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Genetic and genomic alterations
Source: Childhood Soft Tissue Sarcoma Treatment (PDQ®)–Health Professional Version, National Cancer Institute.
Source updated: April 21, 2025 · Captured 2026-09-09.
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Context: Treatment of Tumors of Uncertain Differentiation / Rhabdoid Tumor NOS (Extrarenal)
The first sizeable series of children with extrarenal extracranial malignant rhabdoid tumor of soft tissues came from 26 patients enrolled on the IRS I through III studies during a review of pathology material. Only five patients (19%) were alive without disease beyond 2 years.[125]
Source links and citations
Investigation of children with atypical teratoid/rhabdoid tumors of the brain, as well as those with renal and extrarenal malignant rhabdoid tumors, found germline pathogenic variants and acquired variants of the SMARCB1 gene in all 29 tumors tested.[126] Rhabdoid tumors may be associated with germline pathogenic variants of the SMARCB1 gene and may be inherited from an apparently unaffected parent.[127] This observation was extended to 32 malignant rhabdoid tumors at all sites in patients whose mean age at diagnosis was 12 months.[128]
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