title: Alveolar soft part sarcoma--reciprocal translocation between chromosome 17q25 and Xp11. Report of a case with metastases at presentation and review of the literature.
abstract: The molecular pathogenesis of alveolar soft part sarcoma, a rare tumor with uncertain histogenesis, was elucidated recently and was shown to be due to a translocation between chromosome 17q25 and Xp11 resulting in a fusion product between TFE3 (a transcription factor gene) at chromosome Xp11 and a novel gene designated as ASPL at chromosome 17q25. This results in the transcriptional dysregulation in the pathogenesis of this neoplasm. Of the 12 cases reported so far, the translocation was due to non-reciprocal translocation in 11 cases with only one case demonstrating a reciprocal translocation with respective fusion products. We report yet another case with reciprocal translocation between chromosomes 17q25 and Xp11 with TFE3/ASPL fusion product who presented with metastatic disease. A standard cytogenetic analysis of primary tumor cells with G-banding revealed an abnormal karyotype: 46, X, t(X;17)(p11;q25)[15]/46,XX[5]. PCR analysis of the frozen tumor tissue revealed a type 1 fusion product as described in the literature. We demonstrate a rare cytogenetic abnormality in ASPS, namely reciprocal translocation between chromosomes 17q25 and Xp11 with demonstration of molecular fusion product between TFE3 and ASPL in a patient who initially presented with pulmonary metastases.
authors.affiliation: Department of Pathology, UMDNJ-New Jersey Medical School, UH-E-140, 150 Bergen Street, Newark, New Jersey 07103, USA. hameedmr@umdnj.edu
authors.forename: S
authors.initials: S
authors.lastname: Uppal
authors.forename: H
authors.initials: H
authors.lastname: Aviv
authors.forename: F
authors.initials: F
authors.lastname: Patterson
authors.forename: S
authors.initials: S
authors.lastname: Cohen
authors.forename: J
authors.initials: J
authors.lastname: Benevenia
authors.forename: S
authors.initials: S
authors.lastname: Aisner
authors.forename: M
authors.initials: M
authors.lastname: Hameed
mesh_terms: D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D002886:Chromosomes, Human, Pair 17; D041321:Chromosomes, Human, X; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005542:Forearm; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008175:Lung Neoplasms / Q000556:secondary; D009363:Neoplasm Proteins / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D018234:Sarcoma, Alveolar Soft Part / Q000235:genetics* / Q000473:pathology / Q000556:secondary; D012983:Soft Tissue Neoplasms / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: C422743:ASPSCR1 protein, human; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; C069203:TFE3 protein, human; D014157:Transcription Factors