1 Department of Radiology, Research Institute of Radiology, Chung-Ang University Hospital, Seoul, Korea.
2 Department of Radiology, Research Institute of Radiology, Asan Medical Center, University of Ulsan College of Medicine, 88 Olympic-ro 43 gil, Songpa-gu, Seoul 05505, Korea.
AJR Am J Roentgenol. 2017 Oct;209(4):920-928. doi: 10.2214/AJR.16.16957. Epub 2017 Aug 10.
The purpose of this study is to retrospectively evaluate the relationships between the BRCA mutation types, imaging features, and pathologic findings of breast cancers in BRCA1 and BRCA2 mutation carriers.
We identified patients with breast cancer with BRCA gene mutations from January 2000 to December 2014. After excluding patients who underwent lesion excision before MRI, 99 BRCA1 and 103 BRCA2 lesions in 187 women (mean age, 39.7 and 40.4 years, respectively) were enrolled. Mammographic, sonographic, and MRI scans were reviewed according to the BI-RADS lexicon (5th edition). Pathologic data were reviewed, including the immunohistochemistry findings. The relationships between the BRCA mutations and both imaging and pathologic findings were analyzed.
The distribution of molecular subtypes of tumors significantly differed by the mutation type. BRCA1 tumors were associated with the triple-negative subtype, whereas BRCA2 tumors were associated with the luminal B subtype (p = 0.002). At MRI, breast cancers with BRCA1 mutations exhibited a circumscribed margin (p = 0.032) and rim enhancement (p = 0.013). No significant differences in mass shape or kinetic features were observed at MRI. Cancers in BRCA1 mutation carriers tended to develop in the posterior location in the breast (p = 0.034). At mammography, no significant difference in the prevalence of calcifications was observed according to the mutation type. At sonography, BRCA1 lesions were found to be associated with posterior acoustic enhancement (p < 0.0001).
Breast cancers with BRCA1 mutations tend to exhibit benign morphologic features at MRI, mammography, and sonography, compared with BRCA2 mutations. Lesion location may represent another difference on imaging among various genetic phenotypes.
本研究旨在回顾性评估 BRCA1 和 BRCA2 基因突变携带者的乳腺癌 BRCA 突变类型、影像学特征和病理表现之间的关系。
我们从 2000 年 1 月至 2014 年 12 月期间确定了携带 BRCA 基因突变的乳腺癌患者。排除 MRI 前进行病变切除术的患者后，共纳入 187 名女性的 99 个 BRCA1 和 103 个 BRCA2 病变（平均年龄分别为 39.7 和 40.4 岁）。根据 BI-RADS 词汇表（第 5 版）对乳腺 X 线摄影、超声和 MRI 扫描进行了回顾。回顾了病理数据，包括免疫组织化学检查结果。分析了 BRCA 突变与影像学和病理表现之间的关系。
肿瘤的分子亚型分布因突变类型而异。BRCA1 肿瘤与三阴性亚型相关，而 BRCA2 肿瘤与 luminal B 亚型相关（p = 0.002）。在 MRI 上，BRCA1 突变的乳腺癌表现为边界清晰（p = 0.032）和边缘增强（p = 0.013）。MRI 上未见肿块形状或动力学特征的显著差异。BRCA1 突变携带者的癌症倾向于在乳房的后位发生（p = 0.034）。在乳腺 X 线摄影中，根据突变类型，钙化的发生率没有显著差异。在超声上，BRCA1 病变与后向声增强相关（p < 0.0001）。
与 BRCA2 突变相比，BRCA1 突变的乳腺癌在 MRI、乳腺 X 线摄影和超声检查中表现出良性形态学特征。病变位置可能代表不同遗传表型之间影像学上的另一个差异。
