Primary alveolar soft part sarcoma of fibula demonstrating ASPL-TFE3 fusion: a case report and review of the literature.
Alveolar soft part sarcoma is a rare soft tissue tumor typically affecting young adults. These tumors are most often seen in the deep soft tissues of the extremities and patients generally present with advanced disease. Primary bone involvement is extremely rare and has only been reported in seven cases. This is the first case of alveolar soft part sarcoma in bone documenting the ASPL-TFE3 gene product. Herein, we report a rare presentation of alveolar soft part sarcoma presenting as a primary bone neoplasm involving the proximal fibula in a 41-year-old woman.
Aisner
Seena C
SC
Department of Pathology, New Jersey Medical School-University Hospital, 150 Bergen Street, UHE 155, Newark, NJ 07103, USA. aisnersc@umdnj.edu
Beebe
Kathleen
K
Blacksin
Marcia
M
Mirani
Neena
N
Hameed
Meera
M
D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D003937:Diagnosis, Differential; D005260:Female; D005360:Fibula / Q000473:pathology*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008279:Magnetic Resonance Imaging; D015514:Oncogene Proteins, Fusion; D018234:Sarcoma, Alveolar Soft Part / Q000175:diagnosis* / Q000473:pathology; D014057:Tomography, X-Ray Computed
C422743:ASPSCR1 protein, human; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D047908:Intracellular Signaling Peptides and Proteins; D015514:Oncogene Proteins, Fusion; C069203:TFE3 protein, human