Novel ZFTA::NCOA1 fusion in chondroid lipoma

Ependymoma‐like tumor with mesenchymal differentiation (ELTMD) with ZFTA:NCOA1 fusion: A diagnostic challenge

“…In addition to the ST-EPN, the ZFTA:NCOA1 fusion was also recently described in a case of chondroid lipoma, where the common fusion transcript involved ZFTA and MRTFB. 3 In conclusion, ependymomas with non-RELA partners for ZFTA can show marked variation in morphology and immunophenotype and can be a significant diagnostic challenge, as was observed in the current case. The use of RNA fusion testing and methylation profiling can be a useful adjunct in cases that pose a diagnostic dilemma upon light microscopy examination.…”

“…The ependymomas with ZFTA‐RELA fusion are considered to have poor progression‐free and overall survival. In addition to the ST‐EPN, the ZFTA:NCOA1 fusion was also recently described in a case of chondroid lipoma, where the common fusion transcript involved ZFTA and MRTFB 3 …”

“…ZFTA (zinc finger translocation associated) (formerly chromosome 11 open reading frame 95, C11orf95) is a negative regulator of transcription, while nuclear receptor coactivator 1 (NCOA1) is a transcriptional coactivator for steroid and nuclear hormone receptors, which stimulates the transcriptional activities in a hormone-dependent fashion. 3 ST-EPN, ZFTA fusion-positive, is a recently described entity, which encompasses a combination of histology, location, and specific molecular alteration. This entity was previously called ST-EPN, RELA-fusion-positive, but since more non-RELA partners were identified, the histomolecular group was renamed ST-EPN, ZFTA-fusion-positive.…”

“…ZFTA (zinc finger translocation associated) (formerly chromosome 11 open reading frame 95, C11orf95) is a negative regulator of transcription, while nuclear receptor coactivator 1 (NCOA1) is a transcriptional coactivator for steroid and nuclear hormone receptors, which stimulates the transcriptional activities in a hormone‐dependent fashion 3 …”