Li-Fraumeni Syndrome With Six Primary Tumors—Case Report

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with a high, lifetime risk of a broad spectrum of cancers caused by pathogenic germline TP53 mutations. Numerous different germline TP53 mutations have been associated with LFS, which has an exceptionally diverse clinical spec...

Full description

Saved in:
Bibliographic Details
Published in:Case reports in oncological medicine 2024-05, Vol.2024, p.6699698-7
Main Authors: Stojiljković, Dejan, Cvetković, Ana, Jokić, Andrej, Mirčić, Dijana, Mihajlović, Sanja, Krivokuća, Ana, Crnogorac, Marija Đorđić, Glisic, Lazar
Format: Article
Language:English
Subjects:
Biopsy
Breast cancer
Cancer
Cancer therapies
Case Report
Chemotherapy
Counseling
Deoxyribonucleic acid
Development and progression
DNA
Fludrocortisone
Genes
Genetic aspects
Genetic testing
Genomics
Headaches
Health aspects
Lymphatic system
Mammography
Mastectomy
Medical genetics
Metastasis
Mutation
Oncology
Patient compliance
Pregnancy
Tomography
Tumor proteins
Tumors
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with a high, lifetime risk of a broad spectrum of cancers caused by pathogenic germline TP53 mutations. Numerous different germline TP53 mutations have been associated with LFS, which has an exceptionally diverse clinical spectrum in terms of tumor type and age of onset. Our patient has developed six asynchronous tumors to date: a phyllode tumor of the breast, a pheochromocytoma, a rosette-forming glioneuronal tumor (RGNT), an adrenocortical carcinoma (ACC), a ductal carcinoma of the breast, and a thymoma. The occurrence of such a number of rare tumors is sporadic even among in the population of patients living with cancer predisposition syndromes. In this instance, the omission of pretest genetic counseling and thorough family tree analysis prior to selecting the test led to the oversight of an underlying TP53 likely pathogenic mutation (classified as Class 4). This emphasizes the necessity for such counseling to prevent overlooking crucial genetic information. Neglecting this step could have had profound implications on the patient’s treatment, particularly considering the early onset and occurrence of multiple tumors, which typically raise suspicion of a hereditary component. The implications for family members must be considered.
ISSN:2090-6706
2090-6714
DOI:10.1155/2024/6699698