A high-grade primary leiomyosarcoma of the bladder in a survivor of retinoblastoma

Arch Pathol Lab Med. 2001 Sep;125(9):1231-4. doi: 10.5858/2001-125-1231-AHGPLO.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actins / analysis
  • Adult
  • Cyclin D1 / analysis
  • Cystectomy
  • Desmin / analysis
  • Eye Neoplasms / genetics
  • Eye Neoplasms / surgery*
  • Female
  • Hematuria / etiology
  • Humans
  • Hysterectomy
  • Leiomyosarcoma / diagnostic imaging
  • Leiomyosarcoma / pathology*
  • Leiomyosarcoma / surgery
  • Neoplasms, Second Primary / diagnostic imaging
  • Neoplasms, Second Primary / pathology*
  • Neoplasms, Second Primary / surgery
  • Ovariectomy
  • Retinoblastoma / genetics
  • Retinoblastoma / surgery*
  • Retinoblastoma Protein / analysis
  • Survivors
  • Tomography, X-Ray Computed
  • Tumor Suppressor Protein p53 / analysis
  • Urinary Bladder Neoplasms / diagnostic imaging
  • Urinary Bladder Neoplasms / pathology*
  • Urinary Bladder Neoplasms / surgery


  • Actins
  • Desmin
  • Retinoblastoma Protein
  • Tumor Suppressor Protein p53
  • Cyclin D1