Ashida A, Fukutomi T, Tsuda H, Akashi-Tanaka S, Ushijima T
Department of Surgical Oncology, National Cancer Center Hospital, Tokyo, Japan.
Jpn J Clin Oncol. 2000 Jan;30(1):30-2. doi: 10.1093/jjco/hyd006.
We examined a 34-year-old premenopausal woman who had noticed a left-breast lump a month previously. She had no past history of malignancies but had a family history of breast and ovarian cancers. Her mother had suffered from ovarian cancer when aged 47 years and had died of the disease at age 52. The younger two of the patient's four aunts had developed breast cancer when they were 37 and 48 years old. A physical examination showed an ill-defined mass, 1.5 cm in diameter, located in the upper outer quadrant of the patient's left breast. Mammography revealed diffuse microcalcification in both breasts but ultrasonography revealed an irregular tumorous lesion only in the left breast. Aspiration breast cytology revealed adenocarcinoma of the left breast. Modified radical mastectomy of the left breast and excision of a biopsy specimen from the right breast were carried out simultaneously. Histopathologically the left-breast tumor was an atypical medullary carcinoma with cartilaginous metaplasia, of histological grade 3, and the right-breast specimen showed fibrocystic changes with atypical ductal hyperplasia. Estrogen receptors were positive, but progesterone receptor was not detected on the tumor cells, which were immunopositive for nuclear p53 although c-erbB-2 overexpression was not observed. A nonsense germline mutation of the BRCA1 gene (exon5) was detected. The patient has been well since the operation (10 months). These findings may provide useful information about the carcinogenesis and biological behavior of BRCA1-associated breast cancers.
我们检查了一名34岁的绝经前女性，她在一个月前发现左乳有肿块。她既往无恶性肿瘤病史，但有乳腺癌和卵巢癌家族史。她的母亲47岁时患卵巢癌，52岁时死于该病。患者的四个姨妈中较年轻的两个分别在37岁和48岁时患乳腺癌。体格检查发现左乳外上象限有一个边界不清的肿块，直径1.5厘米。乳腺钼靶检查显示双侧乳腺弥漫性微钙化，但超声检查仅发现左乳有一个不规则肿瘤性病变。乳腺穿刺细胞学检查显示左乳腺癌。同时进行了左乳改良根治术和右乳活检标本切除。组织病理学检查显示，左乳肿瘤为伴有软骨化生的非典型髓样癌，组织学分级为3级，右乳标本显示为伴有非典型导管增生的纤维囊性改变。雌激素受体阳性，但肿瘤细胞未检测到孕激素受体，核p53免疫阳性，未观察到c-erbB-2过表达。检测到BRCA1基因（第5外显子）的无义种系突变。患者术后（10个月）情况良好。这些发现可能为BRCA1相关乳腺癌的致癌机制和生物学行为提供有用信息。
