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.