title: ASPL-TFE3 translocation in vulvovaginal alveolar soft part sarcoma.
abstract: Alveolar soft part sarcoma of the vulvovaginal region is limited to only 8 reported vaginal cases and 1 vulvar case in the English literature. The histogenesis of the tumor remains intriguing with postulates favoring a myogenic versus nonmyogenic origin. A reciprocal translocation for ASPL-TFE3 gene fusion, frequently detected in ~90% of cases, combined with TFE3 protein immunoexpression are highly sensitive and specific methods for diagnostic confirmation. The current report describes a unique case of vulvovaginal alveolar soft part sarcoma showing the classic morphologic features with documentation of TFE3 protein expression and the ASPL-TFE3 gene rearrangement. Furthermore, a brief review of the literature of vulvar and vaginal alveolar soft part sarcoma cases with the various treatment modalities is outlined.
authors.affiliation: Departments of Pathology and Laboratory Medicine (M.N.J., G.S.Z.) Obstetrics and Gynecology (M.S.), American University of Beirut Medical Center, Beirut, Lebanon Department of Pathology (H.AL-A), Memorial Sloan-Kettering Cancer Center, New York, New York Department of Anatomic Pathology (F.W.A-K), Cleveland Clinic, Cleveland, Ohio.
authors.forename: Mark N
authors.initials: MN
authors.lastname: Jabbour
authors.forename: Muhieddine
authors.initials: M
authors.lastname: Seoud
authors.forename: Hikmat
authors.initials: H
authors.lastname: Al-Ahmadie
authors.forename: Fadi W
authors.initials: FW
authors.lastname: Abdul-Karim
authors.forename: Ghazi S
authors.initials: GS
authors.lastname: Zaatari
mesh_terms: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics*; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D018234:Sarcoma, Alveolar Soft Part / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic; D014621:Vagina / Q000473:pathology; D014625:Vaginal Neoplasms / Q000235:genetics* / Q000473:pathology; D014844:Vulva / Q000473:pathology; D014846:Vulvar Neoplasms / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
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