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

Diagn Pathol. 2024 Jan 19;19(1):16. doi: 10.1186/s13000-023-01418-5.

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.

Keywords: Angiomyolipoma; Epithelioid angiomyolipoma; Li-Fraumeni syndrome; PEComa.

Publication types

  • Case Reports

MeSH terms

  • Angiomyolipoma* / diagnosis
  • Angiomyolipoma* / genetics
  • Angiomyolipoma* / pathology
  • Breast Neoplasms*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Kidney Neoplasms* / pathology
  • Li-Fraumeni Syndrome* / complications
  • Li-Fraumeni Syndrome* / diagnosis
  • Li-Fraumeni Syndrome* / genetics
  • Liver Neoplasms* / diagnosis
  • Liver Neoplasms* / genetics
  • Middle Aged
  • Pancreatic Neoplasms*