70岁以上的BRCA1/2突变携带者可能不需要进行高风险监测MRI。

IF 3 3区 医学 Q2 ONCOLOGY Breast Cancer Research and Treatment Pub Date : 2025-06-01 Epub Date: 2025-02-27 DOI:10.1007/s10549-025-07657-y
Astrid Botty van den Bruele, Yi Ren, Samantha M Thomas, Koumani W Ntowe, Laura H Rosenberger, Carolyn Menendez, Lars J Grimm, Akiko Chiba, Jennifer K Plichta
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引用次数: 0

摘要

背景:BRCA1/2突变女性在80岁前患乳腺癌的风险约为69-72%。然而,风险估计在生命的后期变得不稳定。许多未患乳腺癌的老年BRCA1/2突变携带者继续接受高风险监测。我们评估了年龄≥70岁女性的乳腺癌,并确定了诊断为恶性肿瘤的模式。方法:1996年至2022年间发现的BRCA1/2突变女性纳入了这项单机构回顾性研究。队列按BRCA1/2诊断年龄划分(30-59岁,60-69岁和≥70岁)。记录恶性肿瘤的数量和导致诊断的影像学模式。结果:316例BRCA1/2突变患者:基因检测时年龄为30-59岁的占266/316(84.2%),60-69岁的占35/316(11.1%),≥70岁的占15/316(4.7%)。中位随访57个月(IQR 21.6-114.6)。确诊乳腺恶性肿瘤178例(56.3%);161/266(60.5%)的年龄30-59,11/35(31.4%)年龄在60 - 69,6/15(40%)年龄≥70岁(p = 0.002)。在恶性诊断的患者(n = 178)中,140/178(78.7%)通过筛查或诊断性乳房x光检查发现肿瘤,30/178(16.9%)通过MRI检查,1/178(0.6%)通过超声检查,1/178(0.6%)通过手术病理发现肿瘤。在年龄≥70岁的患者中,66.7%(4/6)是通过乳房x光检查发现的。结论:在BRCA1/2突变≥70的女性中,乳房x光检查可能是足够的监测。考虑到许多年龄较大的BRCA1/2携带者可能永远不会发展为乳腺癌,我们的数据支持个体化护理,并考虑对≥70岁的患者进行降级监测。
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High risk surveillance MRI may not be necessary in BRCA1/2 mutation carriers over 70 years old.

Background: The risk of developing breast cancer up to age 80 for women with BRCA1/2 mutations is approximately 69-72%. The risk estimates, however, become labile in the later years of life. Many older BRCA1/2 mutation carriers who have not developed breast cancer continue to undergo high-risk surveillance. We evaluated breast cancers in women age ≥ 70 and identified which modality diagnosed the malignancy.

Methods: Females with BRCA1/2 mutations identified between 1996 and 2022 were included in this single institution retrospective review. The cohort was divided by age at BRCA1/2 diagnosis (30-59, 60-69 & ≥ 70). The number of malignancies and imaging modality which led to the diagnosis were recorded.

Results: There were 316 patients with BRCA1/2 mutations: 266/316 (84.2%) were 30-59 years old at the time of genetic testing, 35/316 (11.1%) were 60-69, and 15/316 (4.7%) were ≥ 70. Median follow-up was 57 months (IQR 21.6-114.6). There were 178 (56.3%) breast malignancies diagnosed; 161/266 (60.5%) age 30-59, 11/35 (31.4%) ages 60-69, and 6/15 (40%) age ≥ 70 (p = 0.002). Of patients with a malignant diagnosis (n = 178), 140/178 (78.7%) had their cancers discovered on either screening or diagnostic mammogram, 30/178 (16.9%) by MRI, 1 /178 (0.6%) on ultrasound, and 1/178 (0.6%) was discovered on surgical pathology. Of the breast cancers diagnosed in patients age ≥ 70, 66.7% (4/6) were found on mammogram.

Conclusions: In women ≥ 70 with BRCA1/2 mutations, mammograms may be sufficient surveillance. Given that a number of older BRCA1/2 carriers may never develop breast cancer, our data supports individualized care and consideration for de-escalated surveillance in those ≥ 70.

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来源期刊
CiteScore
6.80
自引率
2.60%
发文量
342
审稿时长
1 months
期刊介绍: Breast Cancer Research and Treatment provides the surgeon, radiotherapist, medical oncologist, endocrinologist, epidemiologist, immunologist or cell biologist investigating problems in breast cancer a single forum for communication. The journal creates a "market place" for breast cancer topics which cuts across all the usual lines of disciplines, providing a site for presenting pertinent investigations, and for discussing critical questions relevant to the entire field. It seeks to develop a new focus and new perspectives for all those concerned with breast cancer.
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