Simultaneous diagnosis of liver PEComa in a family with known Li–Fraumeni syndrome: a case report

Background Li–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 tum...

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Published in:Clinical sarcoma research 2020-11, Vol.10 (1), p.1-24, Article 24
Main Authors: Galera López, María del Mar, Márquez Rodas, Iván, Agra Pujol, Carolina, García Pérez, Ángela, Velasco Sánchez, Enrique, Álvarez Álvarez, Rosa
Format: Article
Language:English
Subjects:
Abdomen
Age
Brain cancer
Breast cancer
Case Report
Cell cycle
Chemotherapy
Liver
Magnetic resonance imaging
Metastasis
Mutation
Patients
Sarcoma
Tumors
Ultrasonic imaging
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Summary:Background Li–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. Conclusions The 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.
ISSN:2045-3329
2045-3329
DOI:10.1186/s13569-020-00143-7