Seki Akina, Tsunoda Hiroko, Takei Junko, Suzuki Misato, Kanomata Naoki, Yamauchi Hideko
Department of Breast Surgical Oncology, St. Luke's International Hospital, Tokyo, Japan.
Department of Radiology, St. Luke's International Hospital, Tokyo, Japan.
Breast Dis. 2023;42(1):5-15. doi: 10.3233/BD-220006.
BRCA1/2-associated invasive breast cancer has been extensively studied. However, there are few reports of ductal carcinoma in situ (DCIS).
This study aimed to investigate the clinicopathological and imaging findings of DCIS in patients with BRCA1/2 mutations.
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.
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.
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.
与BRCA1/2相关的浸润性乳腺癌已得到广泛研究。然而，关于导管原位癌（DCIS）的报道却很少。
本研究旨在调查BRCA1/2突变患者中DCIS的临床病理和影像学表现。
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月期间被诊断为携带BRCA突变的DCIS患者。回顾了临床病理数据以及乳房X线摄影（MG）、磁共振成像（MRI）和超声（US）检查结果。
我们在28例患者中发现了30处癌症；7例（25.0%）患者携带BRCA1突变，21例（75.0%）携带BRCA2突变。患者的中位年龄为42岁。筛查是发现DCIS最常见的原因（50.0%），其次是在降低风险的乳房切除术后经病理检查诊断出的隐匿性癌症（26.7%）。核分级大多为1级（46.7%），93.3%为雌激素和/或孕激素受体阳性。MG、MRI和US的检出率分别为64.3%、72.0%和64.0%。最常见的影像学表现为MG上的钙化（100%）、MRI上的非肿块强化（88.9%）和US上的低回声区（75.0%）。
与BRCA相关的DCIS与BRCA2的关联更强，其影像学特征与散发性DCIS相似。我们的结果有助于为BRCA突变女性基于基因型的监测策略提供参考。
