Inactivation of the tumor suppressor WTX in a subset of pediatric tumors

摘要: WTX is a tumor suppressor gene expressed during embryonic development and inactivated in 20-30% of cases Wilms tumor, the most common pediatric kidney cancer. has been implicated several cellular processes including Wnt signaling, WT1 transcription, NRF2 degradation, p53 function. Given that widely recently shown to regulate mesenchymal precursor cells organs, we tested for potential involvement panel tumors adult sarcomas. A total 353 were screened deletions by fluorescence situ hybridization (FISH). Discrete somatic identified two cases, one hepatoblastoma embryonal rhabdomyosarcoma, confirmed array comparative genomic hybridization. Direct sequencing full open reading frame 24 hepatoblastomas 21 rhabdomyosarcomas did not identify additional mutations these types. The presence mRNA was without RNA-in Notably, with evidence inactivation, are primitive resemble undifferentiated linked overgrowth syndromes. These results indicate inactivation occurs wider variety types than previously appreciated point shared pathogenic mechanisms between subset malignancies.