乳腺化生性癌伴BRCA1基因突变1例
Metaplastic Breast Carcinoma and BRCA1 Germline Mutation: A Case Report
DOI: 10.12677/acm.2025.151047, PDF,   
作者: 王琪瑶：济宁医学院临床医学院，山东 济宁；熊 斌*, 冯其贞, 张亚杰：济宁医学院附属医院乳腺外科，山东 济宁
关键词: 乳腺肿瘤；化生性癌；BRCA基因；Breast Tumor； Metaplastic Carcinoma； BRCA Gene
摘要: 本文报道一例乳腺化生性癌伴BRCA1基因突变患者的临床资料。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基因突变检测结果：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。
Abstract: 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.
文章引用：王琪瑶, 熊斌, 冯其贞, 张亚杰. 乳腺化生性癌伴BRCA1基因突变1例[J]. 临床医学进展, 2025, 15(1): 339-344. https://doi.org/10.12677/acm.2025.151047

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