Effect of Clinical Information on Diagnostic Performance in Breast Sonography

Objective. The purpose of this study was to assess whether the clinical information (CI) of patients affects the degree of suspicion for malignancy by radiologists performing breast sonography. Methods. We included 150 breast lesions in 144 patients who underwent breast sonography and sonographically guided core needle biopsy. A pathologic diagnosis was available for all 150 breast lesions: 78 (52%) were malignant, and 72 (48%) were benign. Three radiologists retrospectively reviewed the sonograms of all lesions twice at 8‐week intervals first without any CI for the patients (first review) and then with CI such as patient age, palpability, and personal history of risk factors for breast cancer (second review). The reviewers categorized the final assessment according to the American College of Radiology Breast Imaging Reporting and Data System. We compared diagnostic performance such as sensitivity and specificity and the degree of suspicion for malignancy between the image reviews with and without CI. Results. In the second review, sensitivity was improved in all 3 reviewers (94.0 to 99.2%; P < .05), and specificity was decreased (39.8 to 30.8%; P = .04). There was a significant increase of suspicion for malignancy with the patients' CI (P < .05). Conclusions. Clinical information about a patient's breast cancer history and clinical presentation with a palpable mass can increase the suspicion for malignancy on sonography and the sensitivity of sonographic interpretation.     

宁夏地区回族女性散发性乳腺癌易感基因BRCA1/BRCA2突变的研究

摘要：目的：研究宁夏地区回族女性散发性乳腺癌中BRCA1/BRCA2基因 (breast cancer susceptibility gene 1/2)的突变位点及携带情况。 方法：收集60例回族居民乳腺癌石蜡包埋组织标本及15例乳腺小叶增生或纤维腺瘤标本。PCR和DNA直接测序法检测BRCA1基因第2、11和20号外显子和BRCA2基因第11号部分外显子突变情况。 结果：60例乳腺癌BRCA1基因有10例突变,突变率为16.7%,突变位点均位于BRCA1基因。15例对照均未检出突变且淋巴结转移与未转移组间BRCA1基因突变率差异（30.8%与5.9%）有统计学意义（P＜0.05）。 结论：BRCA1基因突变可能与宁夏回族女性乳腺癌发生相关。     

BRCA1基因与乳腺癌的诊断治疗

乳腺癌易感基因1（BRCA1）是乳腺癌的危险因素之一,是迄今为止发现的与乳腺癌发生相关的最重的抑癌基因。其在遗传性乳腺癌患者中具有高的突变率,已成为国外临床评估女性患乳腺癌风险和指导治疗方案选择的重分子标志物。本文主介绍了BRCA1基因的结构和功能;常用BRCA1基因检测方法,如蛋白质截断测试、单链构象多态性检测、变性高效液相色谱分析技术、多重连接探针扩增技术、高分辨率熔解曲线;BRCA1基因在中国乳腺癌人群中突变情况;BRCA1基因在外科治疗和抗肿瘤药物选择方面中的应用等。     

1例男性乳腺癌患者的临床特征及基因突变分析

目的对1例异时性男性乳腺癌和结肠癌患者及其家系成员进行基因突变分析,以明确病因,便于指导临床风险管理决策。方法采用全外显子测序技术对先证者外周血样本进行基因突变分析,结合表型资料,确定候选基因的可能致病位点。应用Sanger测序技术对先证者及其家系成员候选突变位点进行共分离验证。结果在先证者BRCA2基因第11号外显子中发现c.64026406delTAACT (p.Asn2134fs)杂合突变,该突变在乳腺癌信息中心(BIC)、ClinVar数据库中已有报道,为乳腺癌致病性突变。Sanger测序证实其儿子也为该突变的携带者,而其患结肠癌的母亲未检测到该突变。结论 BRCA2基因c.64026406delTAACT突变是该先证者乳腺癌的致病突变位点,而先证者及其母亲所患结肠癌可能为散发。     

基于临床及超声声像图特征的乳腺癌风险预测模型简

目的通过分析乳腺病灶超声征象及部分临床特征建立乳腺癌的风险预测模型。方法回顾性研究2007年7月至2009年1月于本院进行乳腺病灶切除活检术的连续性病例116例,用多因素Logistic回归得到超声及部分临床征象（包括患者年龄、乳腺癌家族史、病灶硬度、活动度、形状、边界、方向、后方回声及钙化）中的独立危险因素,提出乳腺癌风险预测模型,并用受试者工作特征曲线评价模型效果。结果116例乳腺病灶中,52例最终诊断为乳腺癌,其中年龄大于50岁（OR=6．61,95％可信区间1．07—40．72）、临床触诊质硬肿物（OR=6．56,95％可信区间1．32—32．58）、超声声像图形态不规则（OR=19．93,95％可信区间2．49～159．45）、边界模糊（OR=21．32,95％可信区间1．98～230．14）、边缘成角或毛刺状（OR=31．33,95％可信区间2．61～376．02）为乳腺癌的独立危险因素（P〈0．05）。据此建立乳腺癌风险预测模型,该模型整体预测的准确性达96．7％。结论本研究建立的乳腺癌风险预测模型并提出的患乳腺癌风险独立危险因素,在临床实践中具有较高的客观性和可操作性。     

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review

ObjectiveBreast cancer (BC) is the most common form of cancer among Asian females. Mutations in the BRCA1/BRCA2 genes are often observed in BC cases and largely increase the lifetime risk of having BC. Because of the paucity of high-quality data on the molecular spectrum of BRCA mutations in South Asian populations, we aimed to explore these mutations among South Asian countries.MethodsA systematic literature search was performed for the BRCA1 and BRCA2 gene mutation spectrum using electronic databases such as PubMed, EMBASE, and Google Scholar. Twenty studies were selected based on specific inclusion and exclusion criteria.ResultsThe 185delAG (c.68_69del) mutation in exon 2 of BRCA1 was the most common recurrent mutation and founder mutation found. Various intronic variants, variants of unknown significance, large genomic rearrangements, and polymorphisms were also described in some studies.ConclusionsThe South Asian population has a wide variety of genetic mutations of BRCA1 and BRCA2 that differ according to countries and ethnicities. A stronger knowledge of various population-specific mutations in these cancer susceptibility genes can help provide efficient strategies for genetic testing.     

Secretory carcinoma of the breast: sonographic features.

OBJECTIVE: The purpose of this series was to evaluate the sonographic features of secretory carcinoma of the breast. METHODS: Between 1994 and 2006, 9 patients had histologically confirmed secretory carcinoma of the breast in our institution, and 6 of them underwent breast sonography. We retrospectively evaluated the sonographic findings of the patients in correlation with other available images and reviewed the clinical records. RESULTS: Clinical manifestations were a palpable mass (n=3), a bloody nipple discharge (n=1), and screening-detected abnormalities (n=2). Breast sonograms showed masses with a round or oval (n=5) or tubular (n=1) shape, with relatively well-circumscribed (n=2) or partially microlobulated (n=4) margins, and with a hypoechoic (n=4) or an isoechoic (n=2) internal echo texture. Most lesions were single nodules (n=3) or groups of nodules (n=2) measuring 1 cm or smaller, except 1 mass measuring 3.5 cm with axillary lymph node metastasis. Two cases had associated ductectasia. Sonographic assessments were classified as Breast Imaging Reporting and Data System category 3 in 2 cases, category 4A in 3 cases, and category 4B in 1 case. CONCLUSIONS: Secretory carcinoma of the breast is frequently shown as a small benign-looking nodule or group of nodules or sometimes as an intraductal lesion with a low clinical stage on sonography. Although secretory carcinoma is a rare breast malignancy, awareness of its sonographic features will be helpful for the differential diagnosis.     

Sonographic evaluation of early-stage breast cancers that undergo neoadjuvant chemotherapy.

OBJECTIVE: We prospectively evaluated low-stage breast cancers treated with neoadjuvant chemotherapy using whole-volume sonography and color Doppler imaging. METHODS: Thirty-four women with breast cancer (mean maximum size, 2.4 cm) received neoadjuvant chemotherapy with doxorubicin and docetaxel. Targeted whole-volume sonography of tumor sites was performed before and after chemotherapy to assess mass size, color pixel speed-weighted density, and American College of Radiology Breast Imaging Reporting and Data System sonographic characteristics. After chemotherapy, tumor sites were excised by lumpectomy or mastectomy. RESULTS: Three (11.3%) of 34 patients had a complete histologic response. After chemotherapy, correlation was r = 0.716 between final histologic and sonographic sizes. Compared with histologic residual tumors, sonography had 4 false-negative results, 3 false-positive results, and 27 true-positive results (sensitivity, 87%), with no false-negative results among a subgroup of tumors of 7 mm and larger (sensitivity, 100%). The 3 cases with false-positive results were histologic fibrosis or biopsy changes. Mean speed-weighted density was 0.015 before and 0.0082 after chemotherapy (P = .03). After chemotherapy, vascularity was less common within (P = .06) or adjacent to (P = .009) masses or in tumor sites (P = .05). Prechemotherapy variables of gray scale characteristics and vascularity were compared with final histologic size, and all had P > .20. CONCLUSIONS: Postchemotherapy sensitivity of sonography was high for residual tumors of 7 mm or larger. Correlation was moderate between histologic and sonographic final tumor sizes. False-positive results were caused by fibrosis or biopsy-related changes. False-negative results occurred with residual tumor size of 6 mm or smaller. After chemotherapy, vascularity usually decreased, and this was not specific for complete response. Before chemotherapy, no vascular or gray scale feature at initial imaging predicted complete responders.     

声触诊组织成像和定量技术鉴别并优化BI-RIDS４类乳腺肿块的价值

目的：探讨声触诊组织成像和定量(VTIQ)剪切波弹性成像技术鉴别诊断BI-RADS4类乳腺肿块良恶性并优化完善BI-RADS 4A肿块分类的价值。方法：回顾分析2015年12月至2016年12月我科检查的86例BI-RADS4类乳腺肿块的常规超声及VTIQ图像资料,86例均经手术或穿刺病理证实,以病理结果为金标准比较VTIQ鉴别诊断 BI-RADS4类乳腺肿块的价值。从VTIQ图像资料获得病灶内部剪切波速度（SWV）值,分析病理结果良恶性两组病灶剪切波速度值之间的差异。绘制受试者操作特征（ROC）曲线,分析评价VTIQ对BI-RADS4类乳腺结节良恶性诊断的效能,并对51例BI-RADS4A类肿块的分类进行优化完善。 结果：86例乳腺BI-RADS4类肿块经病理结果证实良性肿块56例,占65.12%（56/86),恶性肿块30例,占34.88%（30/86)。用VTIQ鉴别诊断良恶性,测得恶性组的剪切波速度（SWV最大值、最小值、平均值）均明显高于良性组,差异具有统计学意义（P<0.001）。 绘制受试者操作特征（ROC）曲线,获得效能最高的一组值为SWV平均值,获得截断值为3.58m/s,以此来诊断乳腺肿块良恶性的敏感性、特异性、准确性、阳性预测值、阴性预测值为83.33%（25/30）、87.50%（49/56）、86.05%（74/86）、78.13%（25/32）、90.74%（49/54）。以SWV3.58m/s评价 51例BI-RADS4A类肿块,46例小于截断值,可使90.20%（46/51）4A类调整为3类,但有1例恶性肿块被归为BI-RADS3类,导致假阴性率上升。 结论： VTIQ技术结合超声BI-RADS分类有助于提高乳腺良恶性肿块鉴别诊断,尤其可完善BI-RADS4A类肿块分类,减少大多数4A类肿块不必要的穿刺活检或手术,但部分BI-RADS4A类依据弹性成像降类的可疑小病灶,应综合判断,最大化降低假阴性病例。     

散发性乳腺癌BRCA1基因蛋白在不同人种表达的研究

目的 研究不同人种散发性乳腺癌（SBC）BRCA1基因蛋白表达及意义。方法 采用免疫组SP法对中国人69例乳腺癌和15例乳腺纤维腺瘤石蜡切片组织进行BRCA1基因蛋白检测，分析其SBCBRCA1蛋白表达与临床病理指标关系。并与文献报道的其他人种SBCBRCA1基因蛋白表达比较。结果 中国人BRCA1蛋白在SBC中的表达率为60．9％；在乳腺纤维腺瘤组织中的表达率为100％。乳腺癌组织中BRCA1蛋白表达水平低于良性肿瘤组织（P〈0．05）；SBC组织中BRCA1的表达与组织学分级呈负相关（r=-0．720 P〈0．01）。与淋巴结转移数目、患者年龄均无明显相关。根据相关文献，黄种人中我们的研究结果与我国台湾地区有显著性差异（P〈0．05）；而白种人情况相差悬殊。英国与法国间有显著性差异（P〈0．01）。黄种人与法国白种人差异显著（P〈0．01）。中国人、日本人分别与英国白种人有显著性差异（P〈0．01。P〈0．05）。结论 中国人SBCBRCA1蛋白的表达水平的下调在乳腺癌发生发展中有重要意义；其表达的减弱与乳腺癌的病理学分级有关。提示预后差。黄种人和白种人SBCBRCA1基因蛋白表达率均有矛盾分离现象。黄种人与白种人间差异显著；表明BRCA1基因无论在相同人种或不同人种SBC发病机制中所起的作用可能不同。     

Spectrum of sonographic findings in superficial breast masses.

OBJECTIVE: The purpose of this presentation is to show the sonographic findings of breast masses, which can occur in subcutaneous fat or in the cutaneous layer of the breast. METHODS: We reviewed the sonographic findings of superficial breast masses, including the epidermal inclusion cyst, steatocystoma multiplex, fat necrosis, accessory breast, Mondor disease, sparganosis, neurofibroma, tuberculosis, mastitis, and breast malignancy. RESULTS: Specific sonographic features of superficial breast masses have been illustrated. CONCLUSIONS: Radiologists must be familiar with the sonographic findings of various diseases involving the superficial layer of the breast to avoid further patient workup.