MRI in the early detection of breast cancer in women with high genetic risk
MRI in the early detection of breast cancer in women with high genetic risk
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DOI：
10.1177/030089160609200609
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发表时间：
2006-11-01
期刊：
影响因子：
1.9
通讯作者：
Musumeci, Renato
中科院分区：
文献类型：
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作者：
Trecate, Giovanna;Vergnaghi, Daniele;Musumeci, Renato
目的和背景：BRCA 1或BRCA 2生殖系突变的女性患乳腺癌和/或卵巢癌的风险增加。由于这种疾病的早期发病，这组妇女的筛查应该在比一般人群更早的年龄开始。乳腺磁共振成像（BMRI）和超声（US）与乳腺X线摄影（MX）和临床乳腺检查（CBE）在这些人的定期监测的关联已被提出，似乎提高了乳腺癌的早期发现。方法：在一项由Istituto Esciore di Sanita（罗马）发起的多中心研究中，在米兰国家肿瘤研究所（INT），我们招募了116名乳腺癌高遗传风险的妇女，她们要么是BRCA 1或BRCA 2突变携带者，要么有很强的乳腺癌家族史。结果：2000年6月至2005年4月，在INT的116个筛查个体中，12个癌症被检测到（10%）。在该亚组中，1例患者拒绝BMRI，2例患者未进行US。用BMRI我们发现了11种癌症，其中6种只能通过这种技术检测。6例病灶均小于1cm，4例因不规则结节状实质，2例因瘢痕组织或假体，MX均为假阴性。2例未行超声检查，4例假阴性。BMRI发现3例假阳性结果：1例被认为可疑，但与激素影响有关; 1例具有相同模式的病例被送去进行二次超声检查，结果为阴性，6个月后BMRI复查显示实质正常化;第3例组织学检查显示存在腺病。没有假阳性结果登记为MX。结论：二级预防的目的是在其最早阶段的癌症检测。BRCA 1或BRCA 2突变或具有高风险的女性的BMRI筛查似乎是高度敏感的，并且可以检测到乳房X线检查的隐匿性疾病。磁共振成像的准确性高于常规成像，但该技术的缺陷是较低的特异性。为了避免不必要的活检，我们认为，结合BMRI和常规成像可以是非常有用的筛查妇女与乳腺癌的遗传风险高，特别是通过美国的第二次看评估时，BMRI产生唯一的阳性诊断结果。二次超声检查已被证明在识别假阳性BMRI结果和必要时指导活检方面至关重要。
Aims and background: Women with BRCA1 or BRCA2 germline mutations have an elevated risk of developing breast and/or ovarian cancer. Because of the early onset of the disease, screening of this group of women should start at an earlier age than in the general population. The association of breast magnetic resonance imaging (BMRI) and ultrasonography (US) with mammography (MX) and clinical breast examination (CBE) in the regular surveillance of these individuals has been proposed and seems to improve the early detection of breast cancer.Methods: Within a multicenter study started by the Istituto Superiore di Sanita (Rome), at the Istituto Nazionale Tumori of Milan (INT) we enrolled 116 women at high genetic risk for breast cancer; they were either BRCA1 or BRCA2 mutation carriers or had a strong family history of breast cancer. They underwent CBE, MX, US and BMRI once a year.Results: Between June 2000 and April 2005, at INT 12 cancers were detected among the 116 screened individuals (10%). In this subgroup, 1 patient refused BMRI and in 2 cases US was not performed. With BMRI we found 11 cancers and 6 of them were detectable only by this technique. In these 6 cases, the size of the disease was less than 1 cm and MX was false negative due to irregularly nodular parenchyma in 4 cases and scar tissue or prosthesis in the other 2. US was not performed in 2 cases and was false negative in 4 cases. Three false positive results were found with BMRI: 1 case was considered suspect but related to hormonal influences; 1 case with the same pattern was sent for second-look US, which gave a negative result and BMRI review after 6 months showed normalization of the parenchyma; in the third case histology revealed the presence of adenosis. No false positive results were registered for MX.Conclusions: The aim of secondary prevention is the detection of cancer at its earliest stage. BMRI screening in women with BRCA1 or BRCA2 mutations or at high familiar risk appears to be highly sensitive and may detect mammographically occult disease. The accuracy of MR imaging is higher than that of conventional imaging but the technique is flawed by a lower specificity. In order to avoid unnecessary biopsies we believe that the combination of BMRI and conventional imaging can be very useful in screening women with a high genetic risk of breast cancer, especially with second-look evaluation by means of US when BMRI yields the only positive diagnostic result. Second-look US has been demonstrated to be of critical importance both in recognizing false positive BMRI results and in guiding biopsies, when necessary.