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

Am J Surg Pathol. 2006 Oct;30(10):1322-5. doi: 10.1097/01.pas.0000213298.34520.2b.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / analysis
  • Biomarkers, Tumor / analysis
  • Diagnosis, Differential
  • Disease-Free Survival
  • Female
  • Humans
  • Immunohistochemistry
  • Neoplasm Recurrence, Local*
  • Sarcoma / chemistry
  • Sarcoma / pathology*
  • Sarcoma / surgery
  • Soft Tissue Neoplasms / chemistry
  • Soft Tissue Neoplasms / pathology*
  • Soft Tissue Neoplasms / surgery
  • Ultrasonography
  • Urethra / pathology*
  • Urinary Bladder Neoplasms / chemistry
  • Urinary Bladder Neoplasms / pathology*
  • Urinary Bladder Neoplasms / surgery

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Biomarkers, Tumor
  • TFE3 protein, human