Clin Oncol | Volume 2, Issue 1 | Case Presentation | Open Access

Rare Breast Myoepithelial Carcinoma with a Distinctive Genetic Profiling Study

Kerolos Abadeer¹, Judith S. Kaur², Mohd E.M. Ibrahim⁴ and Aziza Nassar^3*

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

^*Correspondance to: Aziza Nassar 

Abstract

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.

Keywords:

Breast; Genetics; Genomic profiling; Immunohistochemistry; Metaplastic carcinoma; Myoepithelial carcinoma; p63

Citation:

Abadeer K, Kaur JS, Ibrahim MEM, Nassar A. Rare Breast Myoepithelial Carcinoma with a Distinctive Genetic Profiling Study. Clin Oncol. 2017; 2: 1215.