Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue.

ABSTRACT:

Background

Li Fraumeni syndrome (LFS) is a hereditary multi-cancer syndrome caused by alterations in TP53 (MIM# 151623). Next generation sequencing (NGS) allows for the detection of TP53 variants at lower variant allele frequencies (VAFs). A TP53 variant with a VAF < 50% may represent mosaic LFS, aberrant clonal expansion (ACE), or possible circulating tumor DNA. Differentiation among these conditions is important for optimal patient management.

Methods

Genetic testing was performed using a custom gene panel, with an average read depth of 350× (range 166-553×). DNA extracted from four different tissues (blood, saliva, cultured skin fibroblasts, and colon) was sequenced.

Results

Here, we describe an adult female patient with a history of an adrenocortical neoplasm and

SUBMITTER: Urban RM 

PROVIDER: S-EPMC12856235 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature