Trichorhinophalangeal Syndrome Type 1-Positive Cells in Breast Dermal Granulation Tissues and Scars: A Potential Diagnostic Pitfall

Abstract:Trichorhinophalangeal syndrome type 1 (TRPS1) immunohistochemistry has been gaining popularity in recent years in the field of surgical pathology for its utility as a highly sensitive and specific marker for breast carcinomas, including those with triple-negative phenotype. More recent data suggest TRPS1 may also prove its utility in the diagnosis of mesenchymal tumors arising in the breast parenchyma, including malignant phyllodes tumors and primary chondrosarcomas and osteosarcomas of the breast. However, little is known about TRPS1 expression in nontumor cells, such as stromal fibroblasts/myofibroblasts of dermal granulation tissues and scars. Here, we describe our unique experience with TRPS1-positive cells, morphologically consistent with reactive fibroblasts/myofibroblasts, seen in dermal granulation tissues and scars from breast skin specimens of a 51-year-old woman with a history of bilateral invasive ductal carcinomas of the breast, status after bilateral total mastectomy and chemoradiation, who presented with nonhealing wounds on the chests. To the best of our knowledge, this is the first reported case of strong TRPS1 expression in dermal granulation tissue/scar. As the usage of TRPS1 immunohistochemistry in routine clinical practice, including in the field of dermatopathology, will likely increase over time, awareness of this potential diagnostic pitfall is important to avoid overinterpretation of the findings.