Abstract
Abstract Introduction/Objective We present a case of epithelioid histiocytoma (EH). The epithelioid nature of this lesion imitates the appearance of neoplastic lesions such as melanocytic, dermatofibroma/histiocytoma, non-Langerhans histiocytosis such as reticulohistiocytoma, atypical fibroxanthoma, and rhabdomyosarcoma. Methods/Case Report Due to the unusual morphology and aberrant immunohistochemical staining pattern of this specific case, the sample was analyzed through Next Generation Sequencing (NGS), which showed the presence of a fusion of genes Sequestosome 1 (SQSTM1) and Anaplastic lymphoma kinas (ALK). SQSTM1 gene produces proteins involved in signal transduction pathways as well as autophagy, while ALK mainly serves the role of cellular communication and development. The most well-known ALK fusion partners include SQSTM and Vinculin (VCL), while there are other fusion partners that were more recently discovered such as Dynactin Subunit 1 (DCTN1) and ETS variant transcription factor 6 (ETV6). The spectrum of neoplasms produced through these fusions is wide as seen in lung adenocarcinoma and renal cell carcinoma (EML4-ALK), epithelioid histiocytoma (SQSTM1-ALK and VCL- ALK), pediatric renal cell carcinoma (VCL-ALK) among others. Results (if a Case Study enter NA) NA Conclusion We hope this case is a helpful addition to the literature to further aid diagnoses of future ALK fusion cases.
Published Version
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
