title: Primary alveolar soft part sarcoma of fibula demonstrating ASPL-TFE3 fusion: a case report and review of the literature.
abstract: 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.
authors.affiliation: Department of Pathology, New Jersey Medical School-University Hospital, 150 Bergen Street, UHE 155, Newark, NJ 07103, USA. aisnersc@umdnj.edu
authors.forename: Seena C
authors.initials: SC
authors.lastname: Aisner
authors.forename: Kathleen
authors.initials: K
authors.lastname: Beebe
authors.forename: Marcia
authors.initials: M
authors.lastname: Blacksin
authors.forename: Neena
authors.initials: N
authors.lastname: Mirani
authors.forename: Meera
authors.initials: M
authors.lastname: Hameed
mesh_terms: 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
chemical_list: 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