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.