Kirita Mitsuhiro, Himoto Yuki, Kuriyama Matsumoto Yuka, Kurata Yasuhisa, Kido Aki, Yamaoka Yusuke, Yamanoi Koji, Mandai Masaki, Minamiguchi Sachiko, Nakamoto Yuji
Kyoto University, Kyoto, Japan.
University of Toyama, Toyama, Japan.
Abdom Radiol (NY). 2025 May 5. doi: 10.1007/s00261-025-04943-7.
Survivors of hereditary retinoblastoma have increased risk of subsequent primary malignancies due to RB1 mutation. We report uterine leiomyosarcoma (LMS) in a hereditary retinoblastoma survivor. She had follow-up for leiomyomas, with pelvic MRI showing typical leiomyomas two years prior. She presented with abdominal distention, and MRI revealed a massive tumor with LMS characteristics where a leiomyoma was previously observed. Chest CT showed a nodule suspicious for metastasis in the left lung. Total hysterectomy with bilateral salpingo-oophorectomy and partial lung resection was performed. Pathology confirmed LMS with pulmonary metastasis. Immunostaining showed complete RB1 loss in tumor cells. LMS was suspected to have arisen near a pre-existing leiomyoma or resulted from its malignant transformation. Continuous follow-up is necessary in hereditary retinoblastoma survivors.
由于RB1突变，遗传性视网膜母细胞瘤幸存者后续发生原发性恶性肿瘤的风险增加。我们报告了一名遗传性视网膜母细胞瘤幸存者发生子宫平滑肌肉瘤（LMS）的病例。她曾因子宫肌瘤接受随访，两年前盆腔MRI显示为典型的子宫肌瘤。她因腹胀就诊，MRI显示在先前观察到子宫肌瘤的部位有一个具有LMS特征的巨大肿瘤。胸部CT显示左肺有一个可疑转移结节。进行了全子宫切除术、双侧输卵管卵巢切除术和部分肺切除术。病理证实为伴有肺转移的LMS。免疫染色显示肿瘤细胞中RB1完全缺失。怀疑LMS是在先前存在的子宫肌瘤附近发生或由其恶变所致。遗传性视网膜母细胞瘤幸存者需要持续随访。
