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The clinical impact of MRI screening for BRCA mutation carriers: the first report in Japan

机译:MRI筛查BRCA突变携带者的临床影响:日本首次报道

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Background There is no consensus on the appropriate surveillance for high-risk women with breast cancer in Japan. We investigated their imaging features and pathological characteristics to build a proper surveillance system for asymptomatic high-risk individuals in the future. Methods We retrospectively reviewed 93 female (median age 43?years) BRCA1 and BRCA2 mutation carriers from our institutional clinical database from 2011 to 2017. The study population was composed of 112 breast cancers. Mammography and MRI were reviewed by examiners blinded to patients’ clinical history. Final surgical or biopsy histopathology served as the reference standard in all the patients. Results Fifty-nine breast cancers met selection criteria; of these, 30 were BRCA1-associated tumors, and 29 were BRCA2-associated tumors. Invasive ductal carcinoma was the most prevalent type in both BRCA1 and BRCA2. There were statistically significant differences in phenotype, nuclear grade, and Ki-67 labeling index between BRCA1 and BRCA2 mutation carriers. Additionally, imaging findings on mammography and MRI were statistically different. Tumors in BRCA2 carriers demonstrated mammographic calcifications more frequently, while those in BRCA1 carriers demonstrated a mass or architectural distortion ( P ?
机译:背景技术在日本,对乳腺癌高危女性进行适当监测尚无共识。我们调查了他们的影像学特征和病理特征,以为将来无症状的高危个体建立适当的监视系统。方法我们回顾性分析了2011年至2017年我们机构临床数据库中的93名女性(中位年龄为43岁)BRCA1和BRCA2突变携带者。研究人群包括112例乳腺癌。乳腺X线摄影和核磁共振成像由不了解患者临床病史的检查员进行检查。最终手术或活检组织病理学作为所有患者的参考标准。结果59例乳腺癌符合选择标准。其中,有30例是BRCA1相关的肿瘤,有29例是BRCA2相关的肿瘤。侵袭性导管癌是BRCA1和BRCA2中最普遍的类型。在BRCA1和BRCA2突变携带者之间,在表型,核级和Ki-67标记指数上有统计学差异。另外,乳腺X线摄影和MRI的影像学发现在统计学上是不同的。 BRCA2携带者的肿瘤表现出更频繁的乳房X线摄影钙化,而BRCA1携带者的肿瘤表现出质量或建筑畸变(P≤0.001)。 MRI的增强模式在两个亚组之间也存在显着差异(P = 0.006)。从统计学上来说,MRI所检测到的病变的大小小于其他方式所检测到的病变的大小(P = 0.004)。结论BRCA1 / 2突变携带者的影像学和组织学特征与其他国家的研究一致。 MRI检测到的病变明显小于非MRI方式检测到的病变。 MRI可以检测到BRCA1突变携带者的所有病变。

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