遗传性乳腺癌-卵巢癌综合征患者乳腺超声影像及病理特征分析

Analysis of breast ultrasound imaging and pathological characteristics in patients with hereditary breast cancer-ovarian cancer syndrome

目的探讨遗传性乳腺癌-卵巢癌综合征(HBOC)患者乳腺超声影像及病理学特征。方法回顾性分析山西省肿瘤医院2012年1月至2021年4月收治的HBOC患者12例, 所有患者经术前穿刺或手术标本病理诊断证实为浸润性乳腺癌, 其中3例为乳腺癌和卵巢癌双原发。对患者的临床、乳腺超声影像及病理学资料进行分析总结。结果 HBOC超声影像表现为形态规则8例, 边界清楚9例, 无毛刺征10例, 无钙化10例, 后方回声增强10例;最大血流速度(0.21±0.09)m/s, 血管阻力指数0.72±0.17, 纵横比≤1者8例。12例HBOS患者中, 浸润性导管癌9例, 伴有髓样特征的乳腺癌3例;组织学分级:Ⅱ级7例, Ⅲ级5例;分子分型:Luminal B型2例, 人表皮生长因子受体2(HER2)型4例, 三阴性型6例。3例卵巢癌及乳腺癌双原发患者组织学类型均为高级别浆液性癌。结论 HBOC是一类具有特殊遗传学背景的肿瘤性疾病, 超声及病理表现具有一定的特征, 超声医师应提高对该病的认识, 注意询问病史及家族史, 降低误诊率, 提高诊断率。

Objective To investigate breast ultrasound imaging and pathological characteristics of patients with hereditary breast cancer-ovarian cancer syndrome(HBOC).Methods A total of 12 patients with HBOC admitted to Shanxi Province Cancer Hospital from January 2012 to 2021 April were retrospectively analyzed.All patients were pathologically diagnosed as invasive breast cancer based on the preoperative puncture or surgical specimens,including 3 patients with double primary cancers of breast and ovary.The clinical,breast ultrasound imaging and pathological data of patients were analyzed.Results The ultrasound imaging of HBOC usually showed regular morphology in 8 cases,clear border in 9 cases,no burr sign in 10 cases,no calcification in 10 cases,rear echo in 10 cases;the maximum blood flow velocity was(0.21±0.09)m/s,the vascular resistance index was 0.72±0.17,and aspect ratio≤1 in 8 cases.Among 12 cases of HBOS,9 cases were invasive ductal carcinoma,3 cases were breast cancer with medullary features;histological grade:7 cases of gradeⅡ,5 cases of gradeⅢ;molecular classification:Luminal B type in 2 cases,human epithelial receptor 2(HER2)type in 4 cases,and triple-negative type in 6 cases.The histological types of 3 patients with double primary cancers of breast and ovary were all high-grade serous carcinoma.Conclusions HBOC is a type of neoplastic disease with a special genetic background.Ultrasound and pathological manifestations have certain characteristics.Sonographers should improve the understanding of the disease and pay attention to the medical history and family history in order to reduce the rate of misdiagnosis and increase the rate of diagnosis.