TFE3 immunoreactivity in alveolar soft part sarcoma of the uterine cervix: case report

Abstract

: Alveolar soft part sarcoma (ASPS) is an uncommon neoplasm that has only rarely been reported in the female genital tract. We report a case of incidentally discovered ASPS in the uterine cervix of a 39-year-old woman that exhibited immunoreactivity for TFE3, a recently described marker of ASPS. Strong nuclear immunoreactivity for TFE3 in tumors characterized by a chromosomal translocation involving the TFE3 gene has been reported in ASPS and a subset of pediatric renal cell carcinomas. This translocation, t(X;17)(p11;q25), fuses the TFE3 transcription factor gene on Xp11 to a novel gene on 17q25, designated ASPL. In our case, the neoplastic nuclei were strongly positive for TFE3. To the best of our knowledge, this is the first report of ASPS of the female genital tract with immunoreactivity for TFE3. Other interesting findings in our case were the small size of the tumor and the absence of clinical symptoms.