title: Hepatic angiomyolipoma in a 26-year-old Caucasian woman with a history of tibial osteosarcoma.
abstract: We report on a 26-year-old Caucasian woman who was referred to the Department of Surgery complaining of general malaise, feeling of fullness with occasional vomiting and intermittent jaundice. The patient had previously suffered from tibial osteosarcoma of the left leg which was resected 13 years ago and subsequently treated with radiation and chemotherapy. During clinical investigations a 12 x 12 x 6.5 cm large mass was found in the left lobe of the liver. This was resected, and subsequently shown to be a sporadic hepatic angiomyolipoma. In order to investigate a possible link between the two tumours, we investigated mutations in the p53-gene, loss of heterozygosity (LOH) at p53, Rb and p16, c-Myc expression, and the telomerase activity of the angiomyolipoma and the osteosarcoma. Whilst the tibial osteosarcoma showed LOH at p16, no genetic alterations or increased telomerase activity were found in the angiomyolipoma. The occurrence of both these tumours in this patient is therefore probably a coincidence.
authors.affiliation: Institute of Pathology, Otto-von-Guericke-University, Magdeburg, Germany. christoph.roecken@medizin.uni-magdeburg.de
authors.forename: C
authors.initials: C
authors.lastname: Röcken
authors.forename: R
authors.initials: R
authors.lastname: Schneider-Stock
authors.forename: P
authors.initials: P
authors.lastname: Buhtz
authors.forename: T
authors.initials: T
authors.lastname: Manger
authors.forename: A
authors.initials: A
authors.lastname: Roessner
mesh_terms: D000328:Adult; D018207:Angiomyolipoma / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D014408:Biomarkers, Tumor / Q000378:metabolism; D001859:Bone Neoplasms / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000378:metabolism; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D006801:Humans; D007124:Immunoenzyme Techniques; D008113:Liver Neoplasms / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D019656:Loss of Heterozygosity; D016609:Neoplasms, Second Primary / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D009687:Nuclear Proteins / Q000378:metabolism; D012516:Osteosarcoma / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D016271:Proto-Oncogene Proteins c-myc / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D019098:Telomerase / Q000378:metabolism; D013977:Tibia; D016159:Tumor Suppressor Protein p53 / Q000378:metabolism
chemical_list: D014408:Biomarkers, Tumor; D019941:Cyclin-Dependent Kinase Inhibitor p16; D004273:DNA, Neoplasm; D009687:Nuclear Proteins; D016271:Proto-Oncogene Proteins c-myc; D016159:Tumor Suppressor Protein p53; D019098:Telomerase