Clinicopathological and imaging features of ductal carcinoma in situ in BRCA1/2 mutation carriers.

Breast disease Pub Date : 2023-01-01 DOI:10.3233/BD-220006

Akina Seki, Hiroko Tsunoda, Junko Takei, Misato Suzuki, Naoki Kanomata, Hideko Yamauchi

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引用次数: 0

Abstract

Background: BRCA1/2-associated invasive breast cancer has been extensively studied. However, there are few reports of ductal carcinoma in situ (DCIS).

Objective: This study aimed to investigate the clinicopathological and imaging findings of DCIS in patients with BRCA1/2 mutations.

Methods: This was a single-institution, retrospective study. We identified patients diagnosed with DCIS with BRCA mutations between September 2003 and December 2020. Clinicopathological data and mammography (MG), magnetic resonance imaging (MRI), and ultrasound (US) findings were reviewed.

Results: We identified 30 cancers in 28 patients; 7 (25.0%) patients had BRCA1 mutations, and 21 (75.0%) had BRCA2 mutations. The median patient age was 42 years. Screening was the most common reason for the detection of DCIS (50.0%), followed by occult cancer diagnosed by pathological examination after risk-reducing mastectomy (26.7%). The nuclear grade was most often 1 (46.7%), and 93.3% were estrogen and/or progesterone receptor positive. The detection rates of MG, MRI, and US were 64.3%, 72.0%, and 64.0%, respectively. The most common imaging findings were calcification (100%) on MG, non-mass enhancement (88.9%) on MRI, and hypoechoic area (75.0%) on US.

Conclusion: BRCA-associated DCIS was more strongly associated with BRCA2, and imaging features were similar to those of sporadic DCIS. Our results are helpful in informing surveillance strategies based on genotypes in women with BRCA mutations.

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BRCA1/2突变携带者导管原位癌的临床病理及影像学特征

背景:brca1 /2相关的浸润性乳腺癌已被广泛研究。然而，导管原位癌(DCIS)的报道很少。目的:本研究旨在探讨BRCA1/2突变患者DCIS的临床病理和影像学表现。方法:这是一项单机构、回顾性研究。我们确定了2003年9月至2020年12月期间诊断为DCIS的BRCA突变患者。临床病理资料和乳房x线摄影(MG)，磁共振成像(MRI)和超声(US)的发现进行了回顾。结果:我们在28例患者中发现了30种癌症;7例(25.0%)患者有BRCA1突变，21例(75.0%)患者有BRCA2突变。患者年龄中位数为42岁。筛查是发现DCIS最常见的原因(50.0%)，其次是降低风险的乳房切除术后通过病理检查诊断的隐匿性癌(26.7%)。核分级多为1级(46.7%)，93.3%为雌激素和/或孕激素受体阳性。MG、MRI、US的检出率分别为64.3%、72.0%、64.0%。最常见的影像学表现为MG上钙化(100%)，MRI上无肿块增强(88.9%)，US上低回声区(75.0%)。结论:brca相关性DCIS与BRCA2的相关性更强，其影像学特征与散发性DCIS相似。我们的结果有助于为BRCA突变女性的基因型监测策略提供信息。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Breast disease Medicine-Oncology

CiteScore

1.80

自引率

0.00%

发文量

期刊介绍： The recent expansion of work in the field of breast cancer inevitably will hasten discoveries that will have impact on patient outcome. The breadth of this research that spans basic science, clinical medicine, epidemiology, and public policy poses difficulties for investigators. Not only is it necessary to be facile in comprehending ideas from many disciplines, but also important to understand the public implications of these discoveries. Breast Disease publishes review issues devoted to an in-depth analysis of the scientific and public implications of recent research on a specific problem in breast cancer. Thus, the reviews will not only discuss recent discoveries but will also reflect on their impact in breast cancer research or clinical management.