Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome- paving the path towards precision medicine: a case report.

ABSTRACT:

Background

Li-Fraumeni syndrome (LFS) is an autosomal dominant tumor predisposition syndrome characterized by a high familial incidence of various malignancies. It results from pathogenic/likely pathogenic heterozygous constitutional variants of the TP53 gene. Due to impaired DNA damage repair, conventional cytotoxic therapies or radiotherapy should be avoided whenever feasible to mitigate the high incidence of treatment-related secondary malignancies in these patients. However, there is limited evidence supporting the effectiveness of targeted therapy approaches in LFS patients.

Case presentation

We present the case of a woman with breast cancer and subsequent osteosarcoma, both treated with surgery and chemotherapy. Constitutional genetic germline testing identified a path

SUBMITTER: Seeling C 

PROVIDER: S-EPMC11739273 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature