Pediatric Rhabdomyosarcoma With TP53 Gene Mutation

Background: Li-Fraumeni syndrome is a classical hereditary cancer predisposition syndrome.It is caused by the germline mutation of the TP53 gene.Patients with LiFraumeni syndrome are prone to tumors.Particular Li-Fraumeni syndrome related tumors and family cancer history are the most important characteristics of this disease.TP53 gene is one of the most important tumor-related gene.p53 protein is a pivotal transcription factor.It is related to kinds of tumors.Soft tissue sarcoma is closely related to Li-Fraumeni syndrome and the TP53 gene mutation.Rhabdomyosarcoma is the most common soft tissue sarcoma in children.There’s high probability for patients with rhabdomyosarcoma to have the TP53 gene mutation.Clinical management and prognosis of them should be different from those without the mutation.Objective: To identify the TP53 gene mutation carriers in pediatric rhabdomyosarcoma patients and to explore the clinical characteristics of them.By helping with clinics on the understanding of the TP53 gene mutation in pediatric rhabdomyosarcoma patients,they can have better prognosis with more proper clinical management.Methods: In this study,we collected all the patients diagnosed with primary rhabdomyosarcoma in Shanghai Children’s Medical Center from June 2016 to December 2017.The characteristics of the tumor and family cancer history were obtained.Genetic testing was performed with the peripheral blood of the patients to screen mutation in the TP53 gene.Looking for TP53 gene mutation carriers and exploring the relationship between the TP53 gene mutation and pediatric rhabdomyosarcoma.Results: 47 patients with primary rhabdomyosarcoma were collected in this study.23 males and 24 females were included.Median age at diagnosis was 53 months(7-169 months old).And 5(10.6%)of them were identified with the TP53 gene mutation.16.7%(2/12)of those with positive family cancer history were found to have the TP53 gene mutation.And 5.9%(2/34)of those without family cancer history were found to have the same mutation.No statistical difference has been proved between them(p=0.586, = 0.05).Conclusion: About 10.6% of all the patients with pediatric rhabdomyosarcoma carried the TP53 gene mutation.Family cancer history could not be the only indicative factor to the mutation.Therefore,it is recommended that all the patients with pediatric rhabdomyosarcoma should be offered with genetic testing.