Objective To describe the clinical characteristics and outcome of patients with Li‐Fraumeni–associated rhabdomyosarcoma (RMS). Method Retrospective analysis of data from 31 French patients with RMS diagnosed before the age of 20 years associated with a TP53 pathogenic germline variant. Cases were identified through the French Li‐Fraumeni database. Central histologic review was performed in 16 cases. Results The median age at diagnosis was 2.3 years, and the median follow‐up was 9.1 years (0.3‐34.8). The main tumor sites were head and neck (n = 13), extremities (n = 8), and trunk (n = 8). The local pathology report classified the 31 tumors in embryonal (n = 26), alveolar (n = 1), pleomorphic (n = 1), and spindle‐cell (n = 1) RMS (missing = 2). After histological review, anaplasia (diffuse or focal) was reported in 12/16 patients. Twenty‐five patients had localized disease, three had lymph node involvement, and three distant metastases. First‐line therapy combined surgery (n = 27), chemotherapy (n = 30), and radiotherapy (n = 14) and led to RMS control in all, but one patient. Eleven patients relapsed, and 18 patients had second malignancies. The 10‐year event‐free, progression‐free, and overall survival rates were 36% (95% CI: 20‐56), 62% (95% CI: 43‐77) and 76% (95% CI: 56‐88), respectively. The 10‐year cumulative risk of second malignancies was 40% (95% CI: 22‐60). Conclusion The high incidence of multiple primary tumors strongly influences the long‐term prognosis of RMS associated with TP53 pathogenic germline variants. Anaplastic RMS in childhood, independently of the familial history, should lead to TP53 analysis at treatment initiation to reduce, whenever possible, the burden of genotoxic drugs and radiotherapy in carriers and to ensure the early detection of second malignancies.

Background Hepatoblastoma tumor rupture is a high‐risk criterion in the SIOPEL 3/4 protocol. Little is known about the outcome of these children. Methods Radiological signs of possible tumor rupture, defined as peritoneal effusion, peritoneal nodules, or hepatic subcapsular hematoma, were reported in 24 of 150 patients treated for hepatoblastoma in France from January 2000 to December 2014 after central radiological expert review. Results Twenty‐two patients with available clinical data were included (nine PRETEXT‐I/II, six PRETEXT‐III, seven PRETEXT‐IV, and five had lung metastases). Five patients had a subcapsular hematoma only, and 17 patients had intraperitoneal rupture (subcapsular hematoma and peritoneal effusion). A hepatic biopsy was performed in 19 patients. Intraperitoneal rupture occurred before biopsy in 12 and after biopsy in three (including one with prebiopsy subcapsular hematoma) (missing data: two). All patients were treated with chemotherapy, with high‐risk regimens including cisplatin or carboplatin and doxorubicin in 19 and cisplatin or carboplatin alone in three. Liver surgery was performed in 20 patients (including three liver transplants). Fifteen patients (68%) achieved complete remission. With a median follow‐up of 5.5 years, 11 events occurred (six progressions and three relapses, including three peritoneal progressions/relapses, one surgical complication, and one second cancer) and eight patients died. One of eight patients with no other high‐risk criterion had a relapse. The three‐year event‐free survival and overall survival rates were 49.6% (95% CI = 30‐69) and 68.2% (40‐84), respectively. Conclusions Tumor rupture is predictive of poor prognosis with risk of peritoneal progression/relapse. However, it should not be a contraindication for liver transplantation.

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