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目的探讨BRCA1突变相关乳腺癌的超声影像学表现及其BI-RADS分类特征。方法 200例乳腺癌患者术前均行二维超声、彩色多普勒血流显像及超声弹性成像检查,其中经PCR联合基因直接测序法检测出BRCA1基因突变的17例患者为实验组,余183例无BRCA1突变者为对照组。分析BRCA1突变相关乳腺癌的超声影像学表现及其BI-RADS分类特征。结果实验组和对照组的形态、边缘、后方回声、钙化、肿块内血流以及弹性评分等超声表现比较,差异均无统计学意义(P>0.05),实验组有29.4%(5/17)形态为椭圆形;58.8%(10/17)肿块边缘为小分叶或毛刺;29.4%(5/17)肿块后方回声衰减;41.2%(7/17)肿块内部出现微钙化;52.9%(9/17)肿块内部血流达Ⅱ～Ⅲ级;82.4%(14/17)肿块UE评分为4～5分。BRCA1突变乳腺癌的BI-RADS分类明显低于无BRCA1突变者(u=2.1966,P=0.0280)。结论 BRCA1突变相关乳腺癌在形态上趋于良性乳腺肿块表现,其BI-RADS分类易被低判,常规超声结合超声弹性成像检查可减少漏诊。
Objective To investigate the ultrasonographic features of BRCA1 mutation-associated breast cancer and its BI-RADS classification. Methods Two hundred and seventy cases of breast cancer were examined by two-dimensional ultrasound, color Doppler flow imaging and ultrasound elastography before surgery. Seventeen patients with BRCA1 gene mutation detected by PCR combined with direct sequencing were the experimental group, 183 cases without BRCA1 mutation as control group. To analyze the ultrasound imaging features and BI-RADS classification of BRCA1-associated breast cancer. Results There was no significant difference in morphology, margins, posterior echo, calcification, intracranial blood flow and elastic score among experimental group and control group (P> 0.05). There were 29.4% (5/17) The shape was oval; 58.8% (10/17) of the edge of the tumor was small lobes or burr; 29.4% (5/17) behind the echo echo attenuation; 41.2% (7/17) / 17) internal blood flow of grade Ⅱ ~ Ⅲ; 82.4% (14/17) mass UE score of 4 to 5 points. The BI-RADS classification of BRCA1 mutant breast cancers was significantly lower than those without BRCA1 mutations (u = 2.1966, P = 0.0280). Conclusion The BRCA1 mutation-associated breast cancer tends to be benign in the form of breast lesions. The classification of BI-RADS is often subject to low judgment. Conventional ultrasound and elastography can reduce the missed diagnosis.