本文报道一例乳腺化生性癌伴BRCA1{1}患者的临床资料。患者为26岁女性,因“发现左乳腺结节1月”入院,彩超示左乳分叶状低回声结节,形态不规则,内未探及血流信号。行乳腺区段切除术,术后病理提示形态学结合免疫组化符合伴间叶分化的化生性癌,癌细胞ER(−)、PR(−)、Her-2(0),BRCA1{1}检测结果:c.192T > G (p.C64W),突变类型为4类–疑似有害变异,术后予AC-T方案化疗6个周期,序贯奥拉帕尼使用1年,目前随访25个月,无局部复发和远处转移。This paper reports the clinical data of a case of breast metaplastic carcinoma with BRCA1 gene mutation. The patient was a 26-year-old woman who was admitted to the hospital with a left breast nodule that had been detected for one month. Ultrasound showed a lobulated hypoechoic nodule in the left breast with an irregular morphology, and no blood flow signals were detected in it. We performed segmental mastectomy for the patient, and postoperative pathology suggested that the morphology combined with immunohistochemistry was consistent with a metaplastic carcinoma with mesenchymal differentiation, and the cancer cells were ER(−), PR(−), and Her-2(0), and the results of the mutation test of the BRCA1 gene were: c.192T > G (p.C64W), and the mutation type was class 4-suspected deleterious variant. After surgery, she was given 6 cycles of chemotherapy with AC-T regimen, sequential Olaparib had been used for one year, and she was followed up for 25 months with no obvious signs of local recurrence or distant metastasis.
目的通过对宁波地区60例乳腺癌BRCA1{1}检测,了解宁波地区乳腺癌患者BRCA1{1}位点及携带分布情况。方法选择2014-2015年宁波市第七医院甲乳外科收治的无血缘关系原发性乳腺癌患者共60例。全部为女性,年龄22-69岁,平均43岁,静脉采血提取DNA,对BRCA1基因进行全长测序。BRCA1基因的突变通过DNA扩增并送交测序,结果经测序证实。统计分析BRCA1{1}情况。结果 60例遗传性乳腺癌,共发现14例（23.33%）BRCA1{1},其中185 del AG（2例）、4956 A〉G（2例）,1100del A（1T例）,IVS17-1G〉T（1例）,3449 ins A（1例）,其余突变在BIC数据库中未见报道。在三阴性乳腺癌中BRCA1突变组织分期较晚,发病年龄偏早。结论宁波地区乳腺癌BRCA1{1}率较高,多为移码突变;三阴性乳腺癌BRCA1突变的组织分期较高;在宁波地区BRCA1基因的185 del AG、4956 A〉G为BRCA1{1}热点。
