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      Alveolar soft-part sarcoma of the urinary bladder with urethral recurrence: a unique case with emphasis on differential diagnoses and diagnostic utility of an immunohistochemical panel including TFE3.

      The American Journal of Surgical Pathology
      Adult, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, analysis, Diagnosis, Differential, Disease-Free Survival, Female, Humans, Immunohistochemistry, Neoplasm Recurrence, Local, Sarcoma, chemistry, pathology, surgery, Soft Tissue Neoplasms, Tumor Markers, Biological, Ultrasonography, Urethra, Urinary Bladder Neoplasms

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          Abstract

          Alveolar soft-part sarcoma (ASPS) is a rare, clinically, morphologically, ultrastructurally, and cytogenetically distinctive malignant mesenchymal tumor that most classically occurs in the extremities of adolescents and young adults, but has also been described in a number of unusual sites. The molecular signature of ASPS is a specific der(17)t(X;17)(p11.2;q25) translocation, which results in the fusion of TFE3 transcription factor gene (from Xp11) with ASPL at 17q25. The ASPL-TFE3 fusion protein encoded by the fusion transcript can be detected immunohistochemically with commercially available antibodies to the carboxy terminus of TFE3. Herein, we report a unique case of ASPS presenting in the bladder with subsequent urethral recurrence in a 25-year-old woman. We emphasize the differential diagnoses engendered by ASPS including common, not-so-common, and rare tumors involving the urinary bladder that have a nested architecture, and both clear and eosinophilic cytoplasm, and demonstrate the utility of a broad immunohistochemistry panel including TFE3 for diagnosis.

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