Wenger, Doris

Myoepithelial tumors are typically characterized by distinct molecular profiles that have been shown to correlate with their anatomical locations. EWSR1 or FUS rearrangements are common in cutaneous, soft tissue and bone tumors, whereas salivary gland myoepithelial tumors are frequently associated with PLAG1 and HMGA2 alterations. This apparent molecular divergence led some previous studies to doubt a common pathogenetic relationship between myoepithelial tumors of soft tissue and bone with their salivary gland counterparts. Herein, we present primary intraosseous myoepithelioma harboring HMGA2::WIF1 fusion. This fusion has been previously identified in a range of salivary gland myoepithelial tumors including myoepitheliomas, myoepithelial carcinomas arising from pleomorphic adenomas, and pleomorphic adenomas themselves. Primary myoepithelial tumors of the bone are exceedingly rare, and to our knowledge, HMGA2 rearrangements have not been previously reported in soft tissue or bone myoepithelial neoplasms. Through this report, we aim to enhance the existing literature on myoepithelial neoplasms, while highlighting the importance of recognizing primary bone myoepitheliomas and contributing to a broader understanding of the pathogenetic landscape of myoepithelial tumors across diverse tissue types.

Abstract Soft tissue sarcomas are a rare and heterogeneous group of malignancies that present significant diagnostic and therapeutic challenges. Patient stratification based on tumor aggressiveness and early therapeutic response based on quantitative imaging may improve prediction of treatment response and the evaluation of new treatment strategies in clinical trials. The purpose of this pilot study was to determine the technical feasibility of magnetic resonance elastography (MRE) and dynamic contrast-enhanced (DCE) MRI for the evaluation of sarcoma stiffness and perfusion in 9 patients with histologically confirmed sarcoma. Additionally, we assessed the feasibility of utilizing MRE and DCE-MRI for the early evaluation of response to radiation therapy in 4 patients to determine the utility of further evaluation in a larger cohort study. Tumor size, stiffness, and perfusion parameters all decreased from baseline at the time of the pre-surgery or follow-up MRI, and results were compared to pathology or conventional imaging. MRE and DCE-MRI may be useful for the quantitative evaluation of tumor stiffness and perfusion, and therapy response assessment in soft tissue sarcomas.

Background: Enchondromas are benign cartilage tumors that can cause pathologic fractures involving the digits of the hand. The purpose of this study is to identify objective reproducible clinical criteria that are associated with fracture that can be used to guide clinical decision making. Methods: A total of 54 enchondroma cases involving the hand were retrospectively reviewed. Criteria examined included age, gender, the hand involved (left vs right), bone involved, the digit involved, and longitudinal percentage of the bone occupied by the lesion on anteroposterior (AP) radiographs. Results: There was a statistically significant difference between the fracture and nonfracture group in regard to age, the digit involved, bone involved, and the percentage of bone occupied by the lesion on AP radiographs. Conclusion: This investigation provides evidence that patient age, the affected finger, the affected bone, and the percentage of the bone occupied by the pathologic lesion on AP radiographs can be used to predict pathologic fracture risk for enchondromas.