Variation of Second Cancer Risk by Family History of Retinoblastoma Among Long-Term Survivors
Variation of Second Cancer Risk by Family History of Retinoblastoma Among Long-Term Survivors
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DOI：
10.1200/jco.2011.37.0239
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发表时间：
2012-03-20
影响因子：
45.3
通讯作者：
Tucker, Margaret A.
中科院分区：
文献类型：
--
作者：
Kleinerman, Ruth A.;Yu, Chu-ling;Tucker, Margaret A.
目的根据视网膜母细胞瘤（Rb）的家族史和侧边性，根据种系突变分类，评估视网膜母细胞瘤（Rb）长期存活患者发生第二癌（SC）的风险。患者和方法我们收集了1852名1年Rb幸存者（双侧，n = 1036；单侧，n = 816）。通过病历和自我报告确定SCs，并通过病理报告证实SCs。根据Rb的侧边性和Rb阳性家族史推断RB1种系突变的分类，遗传或新生。计算所有SCs合并、软组织肉瘤、骨癌和黑色素瘤的标准化发病率和累积发病率。通过泊松回归对双侧幸存者评估宿主和治疗相关危险因素对SC的影响。结果：我们观察到，在治疗、年龄和随访时间调整后，与Rb家族史相关的双侧幸存者中，sc的相对风险（RR）为1.37 （95% CI, 1.00 - 1.86）。有Rb家族史的幸存者患黑色素瘤的风险显著升高（RR, 3.08; 95% CI， 1.23至7.16），但患骨或软组织肉瘤的风险未升高。经竞争死亡风险调整后，双侧Rb诊断后50年SCs的累积发病率在有家族史的幸存者中（47%,95% CI, 35% - 59%）显著高于无家族史的幸存者（38%,95% CI, 32% - 44%, P = 0.004）。结论：双侧疾病和遗传种系突变的rb幸存者与新生种系突变（尤其是黑色素瘤）的幸存者相比，SC的风险略高，这可能是因为共同的遗传改变。[J]中华临床杂志，30(3):950-957。(C)美国临床肿瘤学会2012
PurposeTo evaluate the risk of second cancer (SC) in long-term survivors of retinoblastoma (Rb) according to classification of germline mutation, based on family history of Rb and laterality.Patients and MethodsWe assembled a cohort of 1,852 1-year survivors of Rb (bilateral, n = 1,036; unilateral, n = 816). SCs were ascertained by medical records and self-reports and confirmed by pathology reports. Classification of RB1 germline mutation, inherited or de novo, was inferred by laterality of Rb and positive family history of Rb. Standardized incidence ratios and cumulative incidence for all SCs combined and for soft tissue sarcomas, bone cancers, and melanoma were calculated. The influence of host-and therapy-related risk factors for SC was assessed by Poisson regression for bilateral survivors.ResultsWe observed a relative risk (RR) of 1.37 (95% CI, 1.00 to 1.86) for SCs in bilateral survivors associated with a family history of Rb, adjusted for treatment, age, and length of follow-up. The risk for melanoma was significantly elevated for survivors with a family history of Rb (RR, 3.08; 95% CI, 1.23 to 7.16), but risks for bone or soft tissue sarcomas were not elevated. The cumulative incidence of SCs 50 years after diagnosis of bilateral Rb, with adjustment for competing risk of death, was significantly higher for survivors with a family history (47%; 95% CI, 35% to 59%) than survivors without a family history (38%; 95% CI, 32% to 44%; P = .004).ConclusionRb survivors with bilateral disease and an inherited germline mutation are at slightly higher risk of an SC compared with those with a de novo germline mutation, in particular melanoma, perhaps because of shared genetic alterations. J Clin Oncol 30: 950-957. (C) 2012 by American Society of Clinical Oncology