Extra-renal non-cerebral rhabdoid tumours

Background. Rhabdoid tumours (RTs) are aggressive malignancies of childhood, mainly occurring in the kidney and brain. We describe a national multi-centre retrospective analysis of extra-renal non-cranial RTs (ERRTs). Procedure. Diagnosis relied on central histological review and/or on hSNF5/INI1 defect, evidenced by immunohistochemistry or molecular screening. Clinical data were obtained from physicians. Results. Twenty six patients fulfilled the inclusion criteria. Median age at diagnosis was 28 months [0-366], including late childhood and young adults cases. Surgery, either initial or secondary, was complete in three. All but three patients received chemotherapy, with variable regimens. Additional radiotherapy was used in six patients. Median time to recurrence or progression was 5 months [0-44], and one patient remained free of disease at 7 years. Conclusions. ERRTs share the same chemosensitivity, early recurrence, and poor prognosis as renal and cerebral RTs. No chemotherapy regimen demonstrates a superior response.