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

María Del Mar Galera LópezIván Márquez RodasCarolina Agra PujolÁngela García PérezEnrique Velasco SánchezRosa Álvarez Álvarez
Published in: Clinical sarcoma research (2020)
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.
Keyphrases
  • case report
  • gene expression
  • dna methylation
  • copy number