The dermatopathologist's role in genetic testing for hereditary cancer syndromes: Utility versus patient liberty

Abstract

You are a dermatopathologist at a large academic medical center. A clinician in your department submits a shave biopsy specimen from a 33-year-old woman with a yellow papule on the nasal ala, concerning for basal cell carcinoma. According to the requisition, she has no personal or family history of skin cancer; no other family history is recorded. On review of the biopsy specimen, you find a dermal tumor comprised of basaloid germinative cells with admixed sebocytes. You sign out the case as sebaceous adenoma. Several days later, your clinician colleague calls you asking to have microsatellite instability (MSI) testing performed on the specimen. Although many dermatopathology laboratories may perform this testing reflexively, yours does not. Upon review of the chart, you notice that the patient has not yet been notified of the histologic diagnosis, nor the implications of a possible hereditary cancer syndrome, namely Muir-Torre. When asked about this, your colleague states that the patient is recently married and planning to conceive. He does not want to discuss the potential reproductive ramifications of this syndrome with her until it is confirmed with genetic testing.