NEJM：高危人群预防性切除乳腺、卵巢，是对或是错？

2016-02-04 Mechront 译 MedSci原创

本月发表在新英国医学杂志上的文章对还未患上癌症的遗传性乳腺癌和卵巢癌综合征人群的相关的问题进行了探讨。文章讨论了乳腺癌和卵巢癌最佳的风险评估、风险降低手术的实用性、这些操作的副作用、预防癌症的替代策略和决策的最佳方法。梅奥诊所的肿瘤学家Lynn Hartmann博士，也是本文作者，他说：“遗传性乳腺癌和卵巢癌综合征女性的癌症风险高于一般人群，虽然预防性切除乳腺、输卵管和卵巢，可以降低癌症风险，但切

本月发表在新英国医学杂志上的文章对还未患上癌症的遗传性乳腺癌和卵巢癌综合征人群的相关的问题进行了探讨。文章讨论了乳腺癌和卵巢癌最佳的风险评估、风险降低手术的实用性、这些操作的副作用、预防癌症的替代策略和决策的最佳方法。

梅奥诊所的肿瘤学家Lynn Hartmann博士，也是本文作者，他说：“遗传性乳腺癌和卵巢癌综合征女性的癌症风险高于一般人群，虽然预防性切除乳腺、输卵管和卵巢，可以降低癌症风险，但切除性手术本身也会带来并发症，对心理产生影响。”

病理学家和遗传学家Noralane Lindor博士是本文的共同作者，他们认为应该予以女性更大的支持，因为做出这些决策都是复杂的且充满了感情，同时还需要更多的研究，改进遗传性乳腺癌和卵巢癌综合征的治疗方法。

Hartmann博士说：“到目前为止绝大多数的研究重点在于预防性切除术能都真正的预防癌症的发生，现在手术的有效性已经得到充分证明，研究重点开始转变到女性的心理影响。而截至目前的研究来看，大多数女性对自己所做的决定感到满意，但是仍需要更多的研究来弄明白，我们应该如何帮助她们，以做出最佳选择。”

每年美国都有超过200000名女性被诊断为乳腺癌，超过20000名女性被诊断为卵巢癌。有遗传性乳腺癌和卵巢癌综合征的女性，他们的族谱里总是会出现乳腺癌或卵巢癌。虽然是BRCA1和BRCA2基因突变导致了遗传综合症的出现，但也只对一小部分患者的癌症原因可以归结于基因突变。

Hartmann and Lindor博士说：“由BRCA1和BRCA2基因突变导致的疾病风险会有很大的不同。BRCA1携带者，80岁以下时，乳腺癌风险为67%，卵巢癌风险为45%；而BRCA2携带者，风险值分别为66%和12%。”

BRCA1携带者患上的乳腺癌大多数都是高级别的三阴性乳腺癌，而BRCA2携带者则更容易患上ER+乳腺癌，也是人群常见乳腺癌类型。Hartmann说：“不同乳腺癌类型会有不同的治疗和预后，比如当前有药物可以降低ER+乳腺癌风险，但是没有可以降低ER-乳腺癌风险的药物。”

另外BRCA1携带者比BRCA2携带者更早且更容易发生卵巢癌。当前指南推荐有后代的35-40岁BRCA1和BRCA2携带者，可切除输卵管和卵巢（卵巢输卵管切除术）。作者认为BRCA2携带者的切除术时间可以延迟到45岁，因为50岁前，BRCA2携带者卵巢癌风险仅仅只有1%。

BRCA基因突变的女性并不多见，也就是说存在强烈家族史因素的女性并不常见，因此普及基因检测不是一种很好的选择。Lindor博士说：“非BRCA突变或没有基因突变的女性，对个体癌症风险的评估或治疗益处等均更困难，很难将其定义精确。”

Hartmann和Lindor博士希望可以在以后的研究中，调查清楚女性是如何权衡自己的抉择，明确预防性切除手术或使用预防性药物等之后，女性心理和身体的短期和长期影响，进而改善高危女性的指南推荐。

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原始出处：

The Role of Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer. Lynn C. Hartmann, M.D., and Noralane M. Lindor, M.D. New England Journal of Medicine. DOI.10.1056/NEJMra1503523. Published online 4 February, 2016.

Preventive surgery for women at high risk of breast and ovarian cancer.

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2016-08-05 839640778

#预防性#

44 0
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2016-09-30 Smile2689

#高危人群#

47 0
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2016-02-05 1de47ca2m12(暂无匿称)

继续观察

106 0
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2016-02-05 1de47ca2m12(暂无匿称)

关注

147 0
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2016-02-05 pangshiwei

研究研究

123 0
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2016-02-05 sword20000

一了百了的办法，但也有过度之嫌。

24 0
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2016-02-05 dhzzm

说不清楚

103 0

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