Choroid Plexus Carcinomas With TP53 Germline Mutations: Management and Outcome.

Yanong Li,Jin Feng,Hailong Liu,Xiaoguang Qiu,Tandy Li,Chunde Li,Yanjiao He,Li Chen

doi:10.3389/fonc.2021.751784

Abstract

BackgroundChoroid plexus carcinomas (CPCs) are rare pediatric tumors commonly associated with Li-Fraumeni syndrome (LFS), which involves a germline mutation of the tumor suppressor gene TP53.Materials and MethodsWe retrospectively analyzed the corresponding information of 12 cases, including the effects of surgery and radiotherapy and TP53 germline mutations, to analyse the management strategies. Kaplan-Meier curves and the log-rank test were used to evaluate the progression-free survival (PFS).ResultsTwelve CPC patients were included, of which TP53 germline mutations were found in eight cases. All patients underwent surgical resection, and six patients received radiotherapy following with operation after initial diagnosis, one patient received radiotherapy following relapse. It was significantly different (P=0.012 and 0.028) that patients with TP53 germline mutation receiving the gross total resection (GTR) without radiotherapy showed survival advantages. Without TP53 germline mutations also showed survival advantages, but there is no statistical significance (P=0.063)ConclusionsThese findings provide evidence for the therapeutic strategy that radiotherapy should not be considered for patients with TP53 germline mutations.

Highlights

Choroid plexus carcinomas (CPCs) are rare malignant tumors in the central nervous system (CNS) with an incidence of only 0.4% [1]
TP53 germline mutations were found in 8 patients, with a male-to-female ratio of 3:1 (9 males and 3 females)
The tumor was mainly supratentorial

Summary

Introduction

Choroid plexus carcinomas (CPCs) are rare malignant tumors in the central nervous system (CNS) with an incidence of only 0.4% [1]. The most common reason for the occurrence of CPCs is related to the dysfunction of the tumor suppressor gene, TP53 [3, 4]. It has been reported that TP53 alterations have been observed amongst the 50% of CPC patients [5]. TP53 germline mutation has been reported to be a rare autosomal dominant disorder, Li-Fraumeni syndrome (LFS) [6]. Choroid plexus carcinomas (CPCs) are rare pediatric tumors commonly associated with Li-Fraumeni syndrome (LFS), which involves a germline mutation of the tumor suppressor gene TP53

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Results

Conclusion