Acute lymphoblastic leukemia after rhabdomyosarcoma caused by germline TP53 mutation: a case report and literature review / 中华实用儿科临床杂志

ABSTRACT

Objective:To understand the hereditary cancer related to germline TP53 mutations. Methods:A retrospective analysis was performed on a case of acute lymphoblastic leukemia(ALL) secondary to rhabdomyosarcoma admitted to Wuhan Children′s Hospital in February 2019.The clinical characteristics and gene detection were analyzed, and the correlative literature was studied.Results:The patient was diagnosed with rarely pleomorphic rhabdomyosarcoma at the age of 9 months, and only underwent complete excision without subsequent chemotherapy and radiotherapy.Seven years later, without exposure to suspicious carcinogenic risk factors, she was suffered from secondary ALL, germline TP53 mutations were confirmed by mutation gene detection and genetic verification.She received the induction treatment with Vincristine+ Daunorubicin+ L-Asparaginase+ Dexamethasone(VDLD), and then achieved the complete remission.According to the literature review result, there were 1 438 mutations emerging in TP53 gene, which were dominant by missense point mutations (707 kinds). These mutations could result in early-onset tumors that commonly arose in female patients.Molecular targeted therapy through TP53 gene mutation pathway could resist tumors. Conclusions:Germline TP53 mutation screening should be recommended for the early-onset tumor with genetic predisposition, and systematical monitoring of the family is also suggested, so as to early intervene and prevent the occurrence of the second tumor.The targeted drugs for germline TP53 mutations can reduce the toxicity of radiotherapy and chemotherapy and achieve high treatment effects.