Fusion of the Genes PHF1 and TFE3 in Malignant Chondroid Syringoma

Abstract excerpt

BACKGROUND/AIM: Malignant chondroid syringoma is a rare tumor of unknown pathogenesis. MATERIALS AND METHODS: Genetic analyses were performed on a malignant chondroid syringoma. RESULTS: G-banding analysis of short-term cultured tumor cells yielded the karyotype 46,Y,t(X;6)(p11;p21)[15]/46,XY[2]. RNA sequencing detected an in-frame fusion of PHF1 from 6p21 with TFE3 from Xp11, verified by RT-PCR and Sanger...

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