ArticleClinical sarcoma research2020
Simultaneous diagnosis of liver PEComa in a family with known Li-Fraumeni syndrome: a case report.
Article in Clinical sarcoma research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 12 citations in OpenAlex.
- Characteristics and Treatment of Primary Hepatic Perivascular Epithelioid Cell Tumor (PEComa) in Adults: A Systematic Review.Cancers · 2025Review
- Case review of perivascular epithelioid cell tumor occurring in patients with Li-Fraumeni syndrome.Familial cancer · 2025Review
- Laparoscopic resection of liver PEComa associated with Li‑Fraumeni syndrome: A case report.Biomedical reports · 2024Article
- Primary Liver Perivascular Epithelioid Cell Tumor (PEComa): Case Report and Literature Review.Medicina (Kaunas, Lithuania) · 2024Review
- Epithelioid angiomyolipoma of the liver in a patient with Li-Fraumeni syndrome: a case report.Diagnostic pathology · 2024Article
- Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus as Part of the Hereditary Cancer Syndrome: A Case Diagnosed with Multiple Malignancies.Turk patoloji dergisi · 2023Article
- Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity ofFrontiers in oncology · 2022Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLi-Fraumeni syndrome (LFS) is an autosomal dominant hereditary disease. It is associated with the loss of function of the p53 protein and an increased risk of malignant tumor development at early age. The most frequently detected tumors include breast cancer, sarcomas, leukemia, brain tumors, and adrenocortical carcinomas. While sarcomas account for only 1% of solid tumors, they are more frequently detected in these families. CASE PRESENTATION: We report a simultaneous diagnosis of hepatic perivascular epithelioid cell tumor (PEComa), a very rare subtype of sarcoma, in two siblings with a LFS.
conclusionsThe simultaneous diagnosis of PEComa in two siblings presented in this case allowed us to review the frequency of PEComa in this genetic syndrome previously reported, which was very little. Despite its rarity, PEComa must be considered in the differential diagnosis of new-onset liver lesions in patients who were previously diagnosed with LFS.
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