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Diagnostic Pathology
Published in: Diagnostic Pathology 1/2024

Open Access 01-12-2024 | Tuberous Sclerosis | Case Report

Epithelioid angiomyolipoma of the liver in a patient with Li-Fraumeni syndrome: a case report 

Authors: Yaewon Yang, Jisun Lee, Chang Gok Woo, Ok-Jun Lee, Seung-Myoung Son

Published in: Diagnostic Pathology | Issue 1/2024

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Abstract

Background

Epithelioid angiomyolipoma (EAML) is a rare variant of angiomyolipoma that predominantly consists of epithelioid cells and belongs to the perivascular epithelioid cell neoplasm (PEComa) family. The majority of EAMLs arise in the kidneys, and primary hepatic EAML appears to be much less common than renal EAML. Most PEComas arise sporadically, but may be associated with tuberous sclerosis complex (TSC), an autosomal dominant genetic disorder characterized by germline mutations in the TSC1 or TSC2 genes. However, PEComas have previously been reported in five patients with Li-Fraumeni syndrome (LFS), which is an inherited cancer susceptibility disorder resulting from germline mutations in the TP53 tumor suppressor gene.

Case presentation

We report a 49-year-old female patient with hepatic EAML and pancreatic cancer. Because she had previously been diagnosed with bilateral breast cancer at the age of 30, we performed a comprehensive genetic analysis to identify genetic alterations associated with any cancer predisposition syndrome. Whole-exome sequencing of a blood sample identified a heterozygous germline variant of TP53 (NM_000546.5):c.708C>A, and targeted next-generation sequencing of liver EAML and pancreatic cancer tissue samples demonstrated the same TP53 (NM_000546.5):c.708C>A variant in both. This, plus the patient’s history of early-onset breast cancer, met the 2015 version of the Chompret criteria for diagnosis of LFS.

Conclusions

There have been very few case reports regarding the presence of PEComa in LFS, and to the best of our knowledge, this is the first report of EAML of the liver in a patient with LFS.
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Metadata
Title
Epithelioid angiomyolipoma of the liver in a patient with Li-Fraumeni syndrome: a case report 
Authors
Yaewon Yang
Jisun Lee
Chang Gok Woo
Ok-Jun Lee
Seung-Myoung Son
Publication date
01-12-2024
Publisher
BioMed Central
Published in
Diagnostic Pathology / Issue 1/2024
Electronic ISSN: 1746-1596
DOI
https://doi.org/10.1186/s13000-023-01418-5

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