CHOP, 12q13.3, Red
CHOP, 12q13.3, Green
The CHOP Breakapart probe consists of a green 165kb probe and a red 146kb probe, which are positioned on each side of the CHOP (DDIT3) gene.
Myxoid liposarcoma (MLS) is the most common subtype of liposarcoma1. The TLS-CHOP (FUS-DDIT3) t(12;16)(q13.3;p11) fusion gene, firstly described by Turc-Carel et al. in 19862, is now well established and is present in at least 95% of MLS3.
In rare cases, an EWS-CHOP (EWSR1-DDIT3) t(12;22)(q13;q12) translocation has been described4. The transcription factor gene, CHOP (DDIT3) (CREBP-homologous protein/DNA damage inducible transcript 3), is a negative regulator of adipocyte differentiation5.
The TLS (Translocated in Liposarcoma)6 or FUS7 gene is a nuclear RNA-binding protein with extensive sequence similarity to EWS. The TLS-CHOP protein interferes with adipocyte differentiation and favours proliferation over terminal differentiation4.
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