Wilms' Tumor 1 (WT1): A Novel Immunomarker of Dermatofibrosarcoma Protuberans-An Immunohistochemical Study on a Series of 114 Cases of Bland-Looking Mesenchymal Spindle Cell Lesions of the Dermis/Subcutaneous Tissues.

Abstract

Simple SummaryDermatofibrosarcoma protuberans (DFSP) is a superficial fibroblastic spindle cell sarcoma with a high rate of local recurrence (20% to 50%) but with a low metastatic potential. DFSP is characterized by COL1A1-PDGFB gene fusion and diffuse immunohistochemical expression of CD34. This immunomarker is especially useful in distinguishing DFSP from its morphological mimickers, especially when pathologists are faced with small biopsies. Apart from CD34, there are no additional diagnostic immunomarkers for DFSP, and thus, there is the need to identify more sensitive and specific markers for this sarcoma. Recently, Wilms’ tumor 1 (WT1) has been shown to be diffusely expressed in the cytoplasm of several benign and malignant mesenchymal spindle cell lesions. Based on this background, the aim of this study is to evaluate the immunohistochemical expression of WT1 protein in a series of bland-looking spindle cell lesions of the dermis/subcutis, emphasizing its potential diagnostic role in identifying DFSP among its morphological mimickers.Purpose: to investigate the immunohistochemical expression and distribution of Wilms’ tumor 1 (WT1) (transcription factor produced by the tumor suppressor gene of the same name) in a series of 114 cases of bland-looking mesenchymal spindle cell lesions of the dermis/subcutaneous tissues to establish whether this immunomarker is differentially expressed in dermatofibrosarcoma protuberans (DFSP) versus its potential morphological mimickers. Methods: This retrospective multi-centric immunohistochemical study included 57 DFSP cases, 15 dermatofibromas, 5 deep fibrous histiocytomas, 8 neurofibromas, 5 spindle cell lipomas, 8 dermal scars, 6 nodular fasciitis, 5 cutaneous leiomyomas and 5 solitary fibrous tumors. Among the 57 DFSP cases, 11 were recurrent lesions; 2 non-recurrent cases exhibited an additional “fibrosarcomatous” overgrowth and 1 recurrent and 2 primary tumors contained a minority of “giant cell fibroblastoma” components. Results: Most DFSP (95% of cases) exhibited cytoplasmic staining for WT1; 11/11 residual/recurrent tumors showed diffuse and strong WT1 cytoplasmic immunoreactivity; apart from neurofibromas, WT1 expression was lacking in all the other cases studied. Conclusions: The cytoplasmic expression of WT1 may be exploitable as a complementary diagnostic immunomarker to CD34 in confirming the diagnosis of DFSP and to better evaluate the residual/recurrent tumor component.