[No authors listed]
We present an angiofibroma of soft tissue with the karyotype 46,XY,t(4;5)(q24;q31),t(5;8;17)(p15;q13;q21)[8]/46,XY,t(1;14)(p31;q32)[2]/46,XY[3]. RNAâsequencing showed that the t(4;5)(q24;q31) resulted in recombination of the genes TBCK on 4q24 and P4HA2 on 5q31.1 with generation of an inâframe TBCKâP4HA2 and the reciprocal but outâofâframe P4HA2âTBCK fusion transcripts. The putative TBCKâP4HA2 protein would contain the kinase, the rhodaneseâlike domain, and the Treâ2/Bub2/Cdc16 (TBC) domains of TBCK together with the P4HA2 protein which is a component of the prolyl 4âhydroxylase. The t(5;8;17)(p15;q13;q21) threeâway chromosomal translocation targeted AHRR (on 5p15), NCOA2 (on 8q13), and ETV4 (on 17q21) generating the inâframe fusions AHRRâNCOA2 and NCOA2âETV4 as well as an outâofâframe ETV4âAHRR transcript. In the AHRRâNCOA2 protein, the Câterminal part of AHRR is replaced by the Câterminal part of NCOA2 which contains two activation domains. The NCOA2âETV4 protein would contain the helixâloopâhelix, PAS_9 and PAS_11, CITED domains, the SRCâ1 domain of NCOA2 and the ETS DNAâbinding domain of ETV4. No fusion gene corresponding to t(1;14)(p31;q32) was found. Our findings indicate that, in spite of the recurrence of AHRRâNCOA2 in angiofibroma of soft tissue, additional genetic events (or fusion genes) might be required for the development of this tumor.
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