Breast imaging findings in women with BRCA1- and BRCA2-associated breast carcinoma

Breast imaging findings in women with BRCA1- and BRCA2-associated breast carcinoma
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DOI:
10.1016/j.crad.2004.03.013
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发表时间:
2004-10-01
期刊:
影响因子:
2.6
通讯作者:
Macmillan, RD
Macmillan, RD
中科院分区:
医学4区
文献类型:
--
作者:
Hamilton, LJ;Evans, AJ;Macmillan, RD

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目的:记录BRCA1和brca2相关乳腺癌女性的乳腺影像学表现。材料和方法:家族史临床记录确定了18例BRCA1和10例BRCA2患者,共诊断为27例浸润性乳腺癌和4例导管原位癌(DCIS)病变。所有患者均行术前影像学检查(29例乳房x光检查和22例超声检查)。将所有浸润性brca相关乳腺癌病例与年龄匹配的散发性乳腺癌病例进行比较。结果:BRCA病例的年龄范围为26 ~ 62岁,平均36岁。2例正常,27例(93%)异常。最常见的乳房x线摄影特征是明确的肿块(63%)和微钙化(37%)。34%的女性乳房x光检查显示为致密型,59%为混合型,7%为脂肪型。22例患者行超声检查,其中21例(95%)提示肿块。24%为良性,29%为不确定,48%为恶性。与brca2相关癌相比,brca2相关癌的乳房x光片更频繁地显示明确的肿块,72%对36%(73%对照组);brca2相关癌的乳房x光片更频繁地显示微钙化,73%对12%(8%对照组;p < 0.001)。36%的brca2相关癌DCIS是白色的,没有BRCA1相关癌是纯DCIS (p =纯0.004)。在接受定期乳房x光检查的患者中,100%的brca2相关癌被检出,而brca1相关癌的检出率为75%。结论:这些数据表明,BRCA1和brca2相关癌的影像学表现彼此不同,也不同于年龄匹配的散发性乳腺癌病例。(C) 2004年英国皇家放射学院。Elsevier Ltd.出版。版权所有。
AIM: To document the breast imaging findings of women with BRCA1 and BRCA2-associated breast carcinoma.MATERIALS AND METHODS: Family history clinic records identified 18 BRCA1 and 10 BRCA2 cases who collectively were diagnosed with 27 invasive breast carcinomas and four ductal carcinoma in situ (DCIS) lesions. All underwent pre-operative imaging (29 mammogram and 22 ultrasound examinations). All invasive BRCA-associated breast carcinoma cases were compared with age-matched cases of sporadic breast carcinoma.RESULTS: Within the BRCA cases the age range was 26 - 62 years, mean 36 years. Two mammograms were normal and 27 (93%) abnormal. The most common mammographic features were defined mass (63%) and microcalcifications (37%). Thirty-four percent of women had a dense mammographic pattern, 59% mixed and 7% fatty. Ultrasound was performed in 22 patients and in 21 (95%) indicated a mass. This was classified as benign in 24%, indeterminate in 29% and malignant in 48%. Mammograms of BRCA1-associated carcinomas more frequently showed a defined mass compared with BRCA2-associated carcinomas, 72 versus 36% (73% control group) whitst mammograms of BRCA2-associated carcinomas more frequently showed microcalcification, 73 versus 12% (8% control group; p < 0.001). Thirty-six percent of the BRCA2-associated carcinomas DCIS white none of the BRCA1 associated carcinomas were pure DCIS (p = were pure 0.004). Of those patients undergoing regular mammographic screening, 100% of BRCA2-associated carcinomas were detected compared with 75% of BRCA1-associated carcinomas.CONCLUSION: These data suggest that the imaging findings of BRCA1 and BRCA2-associated carcinomas differ from each other and from age-matched cases of sporadic breast carcinoma. (C) 2004 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.