Department of Medicine, Division of Medical Oncology, Sunnybrook Health Sciences Centre, University of Toronto, 2075 Bayview Avenue, Toronto, Ontario, Canada M4N 3M5.
Br J Cancer. 2012 Jun 26;107(1):24-30. doi: 10.1038/bjc.2012.204. Epub 2012 May 15.
The addition of breast magnetic resonance imaging (MRI) to screening mammography for women with BRCA mutations significantly increases sensitivity, but there is little data on clinical outcomes. We report screening performance, cancer stage, distant recurrence rate, and breast cancer-specific mortality in our screening study.
From 1997 to 2009, 496 women aged 25 to 65 years with a known BRCA1/2 mutation, of whom 380 had no previous cancer history, were enrolled in a prospective screening trial that included annual MRI and mammography.
In 1847 screening rounds, 57 cancers were identified (53 screen-detected, 1 interval, and 3 incidental at prophylactic mastectomy), of which 37 (65%) were invasive. Sensitivity of MRI vs mammography was 86% vs 19% over the entire study period (P<0.0001), but was 74% vs 35% from 1997 to 2002 (P=0.02) and 94% vs 9% from 2003 to 2009 (P<0.0001), respectively. The relative sensitivities of MRI and mammography did not differ by mutation, age, or invasive vs non-invasive disease. Of the incident cancers, 97% were Stage 0 or 1. Of 28 previously unaffected women diagnosed with invasive cancer, 1 BRCA1 mutation carrier died following relapse of a 3 cm, node-positive breast cancer diagnosed on her first screen at age 48 (annual breast cancer mortality rate=0.5%). Three patients died of other causes. None of the 24 survivors has had a distant recurrence at a median follow-up of 8.4 years since diagnosis.
Magnetic resonance imaging surveillance of women with BRCA1/2 mutations will detect the majority of breast cancers at a very early stage. The absence of distant recurrences of incident cancers to date is encouraging. However, longer follow-up is needed to confirm the safety of breast surveillance.
对于携带 BRCA 突变的女性，在筛查性乳房 X 线照相术基础上增加乳房磁共振成像（MRI）可显著提高敏感性，但关于临床结果的数据较少。我们报告了筛查研究中的筛查表现、癌症分期、远处复发率和乳腺癌特异性死亡率。
1997 年至 2009 年，招募了 496 名年龄在 25 至 65 岁之间、已知携带 BRCA1/2 突变的女性，其中 380 名无既往癌症史，她们参加了一项包括每年进行 MRI 和乳房 X 线照相术的前瞻性筛查试验。
在 1847 次筛查轮次中，共发现 57 例癌症（53 例为筛查发现，1 例为间期发现，3 例为预防性乳房切除术时偶然发现），其中 37 例（65%）为浸润性癌。MRI 与乳房 X 线照相术的敏感性在整个研究期间分别为 86%和 19%（P<0.0001），但在 1997 年至 2002 年期间分别为 74%和 35%（P=0.02），而在 2003 年至 2009 年期间分别为 94%和 9%（P<0.0001）。MRI 和乳房 X 线照相术的相对敏感性不因突变、年龄或浸润性与非浸润性疾病而不同。在 28 名之前未受影响但被诊断为浸润性癌的女性中，1 名 BRCA1 突变携带者在其首次筛查时被诊断出患有 3cm 淋巴结阳性乳腺癌（48 岁），并在首次筛查时出现复发（年乳腺癌死亡率=0.5%）后死亡。3 名患者死于其他原因。在诊断后中位随访 8.4 年期间，没有幸存者出现远处复发。
对携带 BRCA1/2 突变的女性进行磁共振成像监测将在非常早期阶段检测到大多数乳腺癌。迄今为止，未发生偶发癌症的远处复发，这令人鼓舞。但是，需要更长时间的随访来证实乳腺监测的安全性。
