A Unique Case of Bilateral Thalamic High-Grade Glioma in a Pediatric Patient with LI-Fraumeni Syndrome: Case Presentation and Review of the Literature.

Raffaella Messina,Nicola Santoro,Giuseppe Ingravallo,Valeria Blè,Teresa Perillo,Gerardo Cazzato,Francesco De Leonardis,Vita Stagno,Francesco Signorelli,Mariachiara Resta

doi:10.3390/neurolint13020017

Abstract

Li-Fraumeni syndrome (LFS) is a rare high-penetrance and autosomal-dominant pathological condition caused by the germline mutation of the TP53 gene, predisposing to the development of tumors from pediatric age. We conducted a qualitative systematic review following the ENTREQ (Enhancing Transparency in Reporting the Synthesis of Qualitative Research) framework. A search was made in MEDLINE/Pubmed and MeSH Database using the terms “Li-Fraumeni” AND “pediatric high-grade glioma (HGG)”, identifying six cases of HGGs in pediatric patients with LFS. We added a further case with peculiar features such as no familiar history of LFS, association of embryonal rhabdomyosarcoma and bithalamic HGG, whose immunohistochemical profile was accurately defined by Next Generation Sequencing. Knowledge synthesis and case analysis grounded the discussion about challenges in the management of this pathology in pediatric age.

Highlights

Li-Fraumeni syndrome (LFS) predisposes to the early onset of a wide variety of cancers associated to a germ line mutation in the TP53 gene, located on the 17p13.1 chromosome
García-Cárdenas et al [3] reported a case of an Ecuadorian pediatric patient with anaplastic astrocytoma genetically characterized using a panel-based next-generation sequencing, whereas Zureick et al [4] reported the case of a 14-year-old boy with LFS and a gigantocellular-type glioblastoma multiforme successfully treated with surgical resection, radiotherapy and Everolimus administration
Despite patients with LFS being likely to develop a second malignancy before 18 years of age, there are no other reports in the literature of an embryonal rhabdomyosarcoma and an high-grade glioma (HGG) in the same patient at such a young age

Summary

Introduction

Li-Fraumeni syndrome (LFS) predisposes to the early onset of a wide variety of cancers associated to a germ line mutation in the TP53 gene, located on the 17p13.1 chromosome. This mutation has a high-penetrance and an autosomal-dominant transmission pattern. Mutations causing a loss of its function, as happens in LFS, predispose to the onset of tumors such as sarcomas, osteosarcomas, breast cancers and pheochromocytomas from childhood. The most frequently found are low-grade gliomas, medulloblastomas and choroid plexus carcinomas in pediatric age and high-grade gliomas (HGGs) in adulthood. Some patients develop multiple tumors from pediatric age

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