Li Dong, Wang Jun, Gao Jinnan
Department of Breast Surgery, Shanxi Academy of Medical Scienses Shanxi Dayi Hospital.
Department of Anesthesia, Armed Police Corps Hospital in Shanxi Province, Xiaodian District, Taiyuan, Shanxi Province, P. R. China.
Medicine (Baltimore). 2019 May;98(19):e15266. doi: 10.1097/MD.0000000000015266.
Wilson disease (WD) is an autosomal recessive hereditary disease in which the patient usually has a reduced risk of developing cancer. In particular, with the exception of hepatocellular carcinoma and cholangiocarcinoma, the incidence of cancer is significantly lower in WD patients compared with the general population. This case study presents a rare case of WD complicated with primary breast cancer.
A 40-year-old woman who was diagnosed with WD at 25 years of age found a lump in her left breast. She has a family history of cancer.
Ultrasound and mammography results were highly suggestive of a malignant lesion. After core needle biopsy, it was confirmed that she had invasive breast cancer.
A modified radical mastectomy was performed for the left breast. As the tumor was defined as a stage IIa triple negative breast cancer, the patient would have been recommended epirubicin/cyclophosphamide + docetaxel for 8 cycles if WD was not a comorbidity. As the patient had cirrhosis and abnormal liver function, she was given paclitaxel weekly for 6 cycles instead.
The patient showed good tolerance, and has not had a recurrence in 2 years.
We reviewed the literature for studies of patients with WD complicated with cancers, and to our knowledge, this is the first report on WD complicated with breast cancer. The patient received chemotherapy even with liver dysfunction, which suggests that patients with WD can be safely treated with paclitaxel chemotherapy under close surveillance.
威尔逊病（WD）是一种常染色体隐性遗传性疾病，患者患癌风险通常较低。特别是，除肝细胞癌和胆管癌外，WD患者的癌症发病率与普通人群相比显著更低。本病例研究呈现了一例罕见的WD合并原发性乳腺癌的病例。
一名40岁女性，25岁时被诊断为WD，发现左乳有一肿块。她有癌症家族史。
超声和乳房X线摄影结果高度提示为恶性病变。在粗针活检后，确诊她患有浸润性乳腺癌。
对左乳实施了改良根治性乳房切除术。由于肿瘤被界定为IIa期三阴性乳腺癌，若WD不是合并症，该患者本应被推荐接受表柔比星/环磷酰胺 + 多西他赛治疗8个周期。由于该患者患有肝硬化且肝功能异常，改为每周给予紫杉醇治疗6个周期。
患者耐受性良好，2年内未复发。
我们查阅了关于WD合并癌症患者的研究文献，据我们所知，这是第一例关于WD合并乳腺癌的报告。该患者即使肝功能不全仍接受了化疗，这表明WD患者在密切监测下可以安全地接受紫杉醇化疗。
