Primary breast cancer in a patient with Wilson disease: A case report

RATIONALE: 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. PATIENT CONCERNS: 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. DIAGNOSES: Ultrasound and mammography results were highly suggestive of a malignant lesion. After core needle biopsy, it was confirmed that she had invasive breast cancer. INTERVENTIONS: 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. OUTCOMES: The patient showed good tolerance, and has not had a recurrence in 2 years. LESSONS: 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.