Increased risk of secondary uterine leiomyosarcoma in hereditary retinoblastoma
Increased risk of secondary uterine leiomyosarcoma in hereditary retinoblastoma
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DOI：
10.1016/j.ygyno.2011.10.019
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发表时间：
2012-02-01
影响因子：
4.7
通讯作者：
Abramson, David H.
中科院分区：
文献类型：
--
作者：
Francis, Jasmine H.;Kleinerman, Ruth A.;Abramson, David H.
Objective.在美国，第二种非眼部恶性肿瘤是生殖系RB 1突变视网膜母细胞瘤幸存者的主要死亡原因。软组织肉瘤是最有可能对这些患者造成风险的恶性肿瘤之一，其中平滑肌肉瘤（LMS）是最常见的亚型。随着我们的队列随访时间的延长，我们发现了这些患者新的第二恶性肿瘤风险。我们评估了1914年至1996年在美国两家机构诊断的1854例视网膜母细胞瘤患者的子宫平滑肌肉瘤（ULMS）风险。通过与康涅狄格州肿瘤登记处或国家癌症研究所监测、流行病学和最终结果（SEER）数据库的人群数据进行比较，计算标准化发病率和超额绝对风险。同时计算了50岁时的累积风险。525名女性遗传性视网膜母细胞瘤患者中有7名发生ULMS。其中5名患者被用于风险分析，导致每10，000名女性中有3.87名女性的额外风险。在发生ULMS的遗传性患者中，随着年龄的增长，过度风险显著增加：对于30 - 39岁的女性遗传性视网膜母细胞瘤患者，过度风险为20/10，000，对于40岁以上的患者，过度风险为27/10，000。女性遗传性视网膜母细胞瘤患者发生ULMS的风险显著增加。随着越来越多的患者活到30多岁，这个数字可能会增加。这些发现提出了遗传性视网膜母细胞瘤患者的早育，筛查和预防措施的问题：所有问题都将受益于其他视网膜母细胞瘤队列的确认，以便更好地指导这些患者的咨询。(C)2011 Elsevier Inc. All rights reserved.
Objective. In the US, second non-ocular malignancies are the primary cause of death in retinoblastoma survivors with the germline RB1 mutation. Soft tissue sarcomas are one of the most likely malignancies to pose a risk to these patients, with leiomyosarcoma (LMS) being the most common subtype. As our cohort is followed for a longer period, we discover new second malignancy risks for these patients.Methods. We estimated the risk for uterine leiomyosarcoma (ULMS) in a cohort of 1854 patients with retinoblastoma who were diagnosed at two US institutions from 1914 through 1996. The standardized incidence ratio and excess absolute risk were calculated by comparison with population data from the Connecticut Tumor Registry or from National Cancer Institute Surveillance, Epidemiology, and End Results (SEER) database. The cumulative risk at 50 years of age was also calculated.Results. Seven of 525 female hereditary retinoblastoma patients developed ULMS. Five of these patients were used in the risk analysis, resulting in an excess risk of 3.87 per 10,000 women. Among hereditary patients who developed ULMS the excess risk increases dramatically with age: to 20/10,000 for female hereditary retinoblastoma patients aged between 30 and 39 years, and to 27/10,000 for patients aged 40+ years.Conclusion. There is a substantial excess risk of ULMS in female hereditary retinoblastoma patients. As more patients survive into their thirties, this number is likely to increase. These findings raise the question of early childbearing, screening and prophylactic measures in hereditary retinoblastoma patients: all issues that would benefit from confirmation from other retinoblastoma cohorts, to allow for better guided counsel of these patients. (C) 2011 Elsevier Inc. All rights reserved.