Department of Pathology, Anatomy, and Laboratory Medicine (PALM), West Virginia University School of Medicine, Robert C. Byrd Health Sciences Center, Morgantown, WV.
Rutgers New Jersey Medical School, New Brunswick, NJ.
Urology. 2020 Jun;140:38-40. doi: 10.1016/j.urology.2020.03.010. Epub 2020 Mar 19.
Hereditary retinoblastoma is attributed to germline mutation in an RB1 tumor suppressor gene followed by somatic mutation in the other allele. This report details a case of leiomyosarcoma of the bladder in a 24-year-old man with a history of retinoblastoma treated by enucleation and radiotherapy in infancy. Leiomyosarcoma is the most common secondary soft tissue malignancy in retinoblastoma survivors; however, leiomyosarcoma of the bladder in retinoblastoma survivors is very rare. Survivors of hereditary retinoblastoma should be monitored closely for secondary malignancies, and there should be an increased suspicion of malignancy. Furthermore, tumors can occur outside the field of radiation.
遗传性视网膜母细胞瘤归因于 RB1 肿瘤抑制基因的种系突变，随后另一个等位基因发生体细胞突变。本报告详细介绍了一例 24 岁男性的膀胱平滑肌肉瘤病例，该患者在婴儿期因视网膜母细胞瘤接受眼球摘除和放疗治疗。平滑肌肉瘤是视网膜母细胞瘤幸存者中最常见的继发性软组织恶性肿瘤；然而，视网膜母细胞瘤幸存者的膀胱平滑肌肉瘤非常罕见。遗传性视网膜母细胞瘤的幸存者应密切监测继发性恶性肿瘤，并应增加对恶性肿瘤的怀疑。此外，肿瘤可能发生在放射野外。
