Saito Motonobu, Matsuzaki Masami, Sakuma Takeshi, Katagata Naoto, Watanabe Fumiaki, Yamaguchi Yoshiko, Schetter Aaron J, Takenoshita Seiichi, Nomizu Tadashi
Department of Surgery and Breast Surgery, Hoshi General Hospital, 2-1-16 Omachi, Koriyama, Fukushima, 963-8501, Japan.
Breast Cancer. 2014 Mar;21(2):140-5. doi: 10.1007/s12282-012-0389-3. Epub 2012 Aug 9.
Recent widespread use of screening mammography has led to increased detection rates of non-palpable breast cancer. This study aimed to evaluate the clinicopathological features of non-palpable ductal carcinomas in situ of the breast that were detected by screening mammography of patients with a family history of breast cancer.
We selected 6 Japanese patients diagnosed with non-palpable breast cancer with self-reported family history of breast cancer. Mutations in BRCA1 and BRCA2 were evaluated with germ line genetic testing and immunohistochemistry (IHC) using resected specimens. Pathological features, such as estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2, were also evaluated.
The patients (ages 41-67 years; mean 53.5) had 7 tumors with one patient having synchronous bilateral breast cancer. Breast cancer was suspected from the microcalcification in 5 tumors and the distortion in 2 tumors by mammography and diagnosed by biopsy. Breast-conserving surgery was performed in 2 patients and mastectomy was performed in 4 patients. Genetic testing revealed BRCA2 gene germ line mutation in three patients. IHC of BRCA was consistent with BRCA2 mutation status.
The family history of breast cancer patients may lead one to suspect familial breast cancer and screening mammography is useful for the early detection of these cancers. IHC of BRCA showed staining results that were consistent with BRCA genetic testing, suggesting that it has the potential to be a useful tool in clinical practice.
近期乳腺钼靶筛查的广泛应用导致不可触及乳腺癌的检出率增加。本研究旨在评估通过对有乳腺癌家族史患者进行乳腺钼靶筛查所检测出的乳腺导管原位癌的临床病理特征。
我们选取了6例自我报告有乳腺癌家族史且被诊断为不可触及乳腺癌的日本患者。使用切除标本通过种系基因检测和免疫组织化学（IHC）评估BRCA1和BRCA2的突变情况。还评估了雌激素受体、孕激素受体和人表皮生长因子受体2等病理特征。
患者年龄在41至67岁之间（平均53.5岁），共发现7个肿瘤，其中1例为同步双侧乳腺癌。5个肿瘤通过乳腺钼靶检查发现微钙化、2个肿瘤发现结构扭曲而怀疑为乳腺癌，并经活检确诊。2例患者接受了保乳手术，4例患者接受了乳房切除术。基因检测显示3例患者存在BRCA2基因种系突变。BRCA的免疫组织化学结果与BRCA2突变状态一致。
乳腺癌患者的家族史可能使人怀疑为家族性乳腺癌，乳腺钼靶筛查有助于这些癌症的早期检测。BRCA的免疫组织化学显示染色结果与BRCA基因检测一致，表明其有可能成为临床实践中的有用工具。
