Liang S X, Lakshmanan Y, Woda B A, Jiang Z
Department of Pathology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
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.
遗传性视网膜母细胞瘤患者发生第二原发性非眼部恶性肿瘤的几率增加。骨肉瘤是迄今为止最常见的类型，发病率高达50%，其次是软组织肉瘤。内脏平滑肌肉瘤极为罕见，在过去20年中仅报告过2例，1例发生在肝脏，另1例发生在膀胱，均在环磷酰胺治疗后发生。在此，我们报告1例膀胱平滑肌肉瘤病例，该病例是在1例遗传性视网膜母细胞瘤确诊47年后于1名49岁女性中诊断出来的。该患者的视网膜母细胞瘤接受了单侧眼球摘除术，未进行辅助放疗或化疗。我们认为，这是首例在无放疗或化疗史的视网膜母细胞瘤患者中发生膀胱平滑肌肉瘤的报告。本报告具有重要意义，不仅因为膀胱平滑肌肉瘤作为视网膜母细胞瘤患者的第二原发性非眼部肿瘤十分罕见，还因为膀胱平滑肌肉瘤总体发病率较低。我们还研究了平滑肌肉瘤潜在的分子发病机制。
