Primitive neuroectodermal tumor of the breast: a case report and review of the literature

Background: Primitive neuroectodermal tumor (PNET) is a rare aggressive type of sarcoma characterized by translocation involving the EWS gene. Peripheral PNET is rarely observed in female breast. So far, only 11 cases of PNETs of breast have been reported in literatures, and no Chinese case has ever been reported. We presented, here, a case of primary PNET of breast occurred in a 32-year-old Chinese woman. At her first visit to the hospital, this woman complained of a palpable mass in her right breast noticed by herself for 6 months. No lesion of metastasis was found by imaging. The diagnosis was established by surgery, immunohistochemical staining and fluorescence in situ hybridization (FISH). The patient received 6 cycles of chemotherapy after surgery using a regimen of cyclophosphamide (CTX) 500 mg/m2 + doxorubicin (ADM) 50 mg/m2 + vincristine (VCR) 2 mg. Since then, she had been on regular follow-up and remained disease free for 51 months after surgery. Conclusion: PNET of breast mainly affects young females. In spite of its extream rarity, PNET of breast should be taken into consideration upon differential diagnosis of breast tumors and positively treated by multidisciplinary planning advisory teams.