Rare Breast Myoepithelial Carcinoma with a Distinctive Genetic Profiling Study

We describe a 74-year-old woman with no family history of breast cancer who presented with a high-grade myoepithelial carcinoma. Diagnosis was supported by immunohistochemical staining for both epithelial (ie, keratin) and myoepithelial (eg., p63, S-100, actin) differentiation. Because the patient reported that her family had an extensive history of neoplasm, a genetic study was ordered. To our knowledge, this is the first case to be reported in the literature with a complete genomic profiling study in which a 4-gene alteration has been detected. Molecular genetics profiling of the tumor using a genetic profile showed a genetic alteration in NF1 (L494fs*4), IRS2 amplification, RB1 loss, and TP53 (Y107D). The patient underwent lumpectomy with sentinel lymph node biopsy and chemotherapy treatment with carboplatin and taxol. She is alive and free of disease.