Nuclear TFE3 expression is a diagnostic marker for Desmoid-type fibromatosis
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RESEARCH
Open Access
Nuclear TFE3 expression is a diagnostic marker for Desmoid-type fibromatosis Luting Zhou, Haimin Xu, Jun Zhou, Lei Dong, Peipei Zhang, Xiaoqun Yang and Chaofu Wang*
Abstract Background: Desmoid-type fibromatosis (DTF) is a lesion characterized by clonal proliferation of myofibroblasts, which exhibits an infiltrative growth pattern. It is necessary for them to be distinguished from other fibroblastic and myofibroblastic lesions as well as spindle cell tumors. Altered Wnt signaling can act as a defining characteristic of DTF, with nuclear β-catenin serving as a diagnostic marker for. Transcription factor E3 (TFE3) has been linked to Wnt pathway activation and regulation, and may add value to the diagnosis of DTF. The present study, therefore, sought to assess whether TFE3 is a specific diagnostic marker for DTF. Methods: Nuclear TFE3 and β-catenin staining was performed on a wide range of tumor types such as DTF (n = 46), nodular fasciitis (n = 14), neurofibroma (n = 5), dermatofibrosarcoma protuberans (n = 5), gastrointestinal stromal tumor (n = 10), sclerosing epithelioid fibrosarcoma (n = 2), synovial sarcoma (n = 5), leiomyoma (n = 3) and cutaneous scar tissue (n = 4) using an immunohistochemical approach. In addition, the clinicopathological features and localization of these tumors were summarized. FISH assay was carried out to examine Xp11.2 translocations/TFE3 gene fusions. Statistical difference between immunohistochemical expression of TFE3 and β-catenin was analyzed. Results: The expression of nuclear TFE3 protein was found in 43 (93.5%) DTF tissue samples, ranging from moderate to intense expression levels. The distribution rates of TFE3 positivity in nodular fasciitis, gastrointestinal stromal tumor, leiomyoma and scar tissue samples were 42.9, 40, 25 and 33%, respectively. All studied samples of neurofibroma, synovial sarcoma, sclerosing epithelioid fibrosarcoma and dermatofibrosarcoma protuberans were negative for TFE3. Conclusions: This study reveal that TFE3 has a potential to serve as a diagnostic marker capable of assisting in the differential diagnosis of DTF and other spindle cell lesions. Keywords: DTF, TFE3, Differential diagnosis, Immunohistochemistry
Background Desmoid-type fibromatosis (DTF) is a form of aggressive localized fibroblastic or myofibroblastic tumor that occur in deep soft tissues, with infiltrative but non-metastatic growth [1, 2]. DTF remains relatively rare, making up just 0.03% of all neoplasms, which affects individuals between the ages of 15 and 60 years [3]. DTF patients aged 40 and below are primarily women, and the tumors are most commonly located at the abdominal wall [3]. DTF can, however, arise in all anatomical regions, and is often divided into intra-abdominal, abdominal and extra-abdominal types [4]. DTF lesions at intra-abdominal sites are primarily linked with familial adenomatous polyposis (FAP) or Gardner * Correspondence: [email protected] Department of Pathology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shan
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