Kerolos Abadeer1, Judith S. Kaur2, Mohd E.M. Ibrahim4 and Aziza Nassar3*
1Division of Nephrology and Hypertension, USA
2Division of Hematology and Oncology and Cancer Center and Breast Clinic, USA
3Department of Laboratory Medicine and Pathology, Mayo Clinic, USA
4Division of Pathology, Massey Cancer Center/VCU, USA
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.
Breast; Genetics; Genomic profiling; Immunohistochemistry; Metaplastic carcinoma; Myoepithelial carcinoma; p63
Abadeer K, Kaur JS, Ibrahim MEM, Nassar A. Rare Breast Myoepithelial Carcinoma with a Distinctive Genetic Profiling Study. Clin Oncol. 2017; 2: 1215.