title: A high-grade primary leiomyosarcoma of the bladder in a survivor of retinoblastoma.
abstract: Second nonocular malignancies develop with increased incidence in patients with hereditary retinoblastoma. Osteosarcoma is by far the most common type with an incidence of up to 50%, followed by soft tissue sarcomas. Visceral leiomyosarcoma is extremely rare and only 2 cases have been reported in the past 2 decades, one in the liver and another one in the urinary bladder, both of which developed after cyclophosphamide therapy. Here we report a case of vesical leiomyosarcoma that was diagnosed in a 49-year-old woman 47 years after the diagnosis of a hereditary retinoblastoma. The patient's retinoblastoma was treated with unilateral enucleation without adjuvant radiation or chemotherapy. We believe that this is the first report of vesical leiomyosarcoma occurring in a patient with retinoblastoma without a prior history of radiation or chemotherapy. This report is significant not only because of the rarity of vesical leiomyosarcoma as a second nonocular tumor in retinoblastoma patients, but also because of the infrequency of vesical leiomyosarcoma in general. We also investigated the potential molecular pathogenesis of the leiomyosarcoma.
authors.affiliation: Department of Pathology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
authors.forename: S X
authors.initials: SX
authors.lastname: Liang
authors.forename: Y
authors.initials: Y
authors.lastname: Lakshmanan
authors.forename: B A
authors.initials: BA
authors.lastname: Woda
authors.forename: Z
authors.initials: Z
authors.lastname: Jiang
mesh_terms: D000199:Actins / Q000032:analysis; D000328:Adult; D019938:Cyclin D1 / Q000032:analysis; D015653:Cystectomy; D003893:Desmin / Q000032:analysis; D005134:Eye Neoplasms / Q000235:genetics / Q000601:surgery*; D005260:Female; D006417:Hematuria / Q000209:etiology; D006801:Humans; D007044:Hysterectomy; D007890:Leiomyosarcoma / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery; D016609:Neoplasms, Second Primary / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery; D010052:Ovariectomy; D012175:Retinoblastoma / Q000235:genetics / Q000601:surgery*; D016160:Retinoblastoma Protein / Q000032:analysis; D017741:Survivors; D014057:Tomography, X-Ray Computed; D016159:Tumor Suppressor Protein p53 / Q000032:analysis; D001749:Urinary Bladder Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery
chemical_list: D000199:Actins; D003893:Desmin; D016160:Retinoblastoma Protein; D016159:Tumor Suppressor Protein p53; D019938:Cyclin D1