title: Renal angiomyolipoma with epithelioid sarcomatous transformation and metastases: demonstration of the same genetic defects in the primary and metastatic lesions.
abstract: Angiomyolipoma (AML) is a benign neoplasm that occurs either sporadically or in patients with tuberous sclerosis complex (TSC) and shows frequent allelic losses at chromosome arm 16p. It has been suggested recently that the melanogenesis marker-positive perivascular epithelioid cell (PEC) has been found consistently in AML. The authors report a 50-year-old woman without evidence of TSC affected by classic renal AML containing an area composed of atypical epithelioid cells with the same morphoimmunophenotypic characters of PEC. After 7 years from surgical removal of the lesion, the patient developed a local recurrence and successive lung and abdominal metastases that showed morphologic and immunohistochemical features overlapping those of the epithelioid area of the previously removed AML. Genetic analysis showed that the classic AML and its epithelioid area as well as the pulmonary and abdominal metastases shared the same allelic loss on chromosome arm 16p. Based on these findings, the authors view this case as evidence of a malignant transformation of a classic AML with morphologic, immunophenotypic, and genetic demonstration of its clonal origin.
authors.affiliation: Dipartimento di Patologia-Sezione Anatomia Patologica, Università di Verona, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Martignoni
authors.forename: M
authors.initials: M
authors.lastname: Pea
authors.forename: G
authors.initials: G
authors.lastname: Rigaud
authors.forename: E
authors.initials: E
authors.lastname: Manfrin
authors.forename: C
authors.initials: C
authors.lastname: Colato
authors.forename: G
authors.initials: G
authors.lastname: Zamboni
authors.forename: A
authors.initials: A
authors.lastname: Scarpa
authors.forename: R
authors.initials: R
authors.lastname: Tardanico
authors.forename: M
authors.initials: M
authors.lastname: Roncalli
authors.forename: F
authors.initials: F
authors.lastname: Bonetti
mesh_terms: D000008:Abdominal Neoplasms / Q000473:pathology* / Q000556:secondary*; D000483:Alleles; D018207:Angiomyolipoma / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D014408:Biomarkers, Tumor; D002292:Carcinoma, Renal Cell / Q000473:pathology; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D007668:Kidney / Q000000981:diagnostic imaging / Q000473:pathology; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D008175:Lung Neoplasms / Q000473:pathology* / Q000556:secondary*; D018895:Microsatellite Repeats; D008875:Middle Aged; D009364:Neoplasm Recurrence, Local / Q000473:pathology; D009378:Neoplasms, Multiple Primary / Q000473:pathology; D009392:Nephrectomy; D016133:Polymerase Chain Reaction; D013997:Time Factors; D014057:Tomography, X-Ray Computed
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm