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, Case 2 presented a tetraploid genome with the loss of one copy of chromosomes 1, 3, 13, 14, 17, 21 and 22 and with homozygous deletion of chromosome region 17q22, impacting the MBTD1, UTP18 and CA10 genes. The 5' region of SS18 (on the minus strand) and 3' region of CRTC1 (on the plus strand) were lost, in accordance with an unbalanced translocation. (C) Hierarchical clustering of RNAseq data placed the two CRTC1-SS18 cases close to EWSR1-CREB1-positive tumours. (D) NTRK1 expression from RNAseq data. AFH/ PPMS: Angiomatoid fibrous histiocytoma / Primary pulmonary myxoid sarcoma; CCCS: cutaneous clear cell sarcomas; CM-CT: Cutaneous Melanocytomas with CRTC1-TRIM11 fusion

, Biological analysis of the CRTC1-SS18 gene fusion. (A) Morphological analysis of CRTC1-SS18 expressing cells. CRTC1-SS18 fusion-expressing clones were morphologically distinct from control HEK293s; the cytoplasmic component was small, with pronounced vacuoles and extended, thin pseudopodia

, Expression of the CRTC1-SS18 fusion protein in HEK293 cells significantly increased anchorage-independent growth potential. The number of viable, colony-forming cells present, following incubation in soft agar was increased 2.1-fold in HEK293 cells expressing CRTC1-SS18 compared to HEK293 cells transfected with a control plasmid. Viable cells were determined by a fluorometric assay

, C) Expression of the CRTC1-SS18 fusion protein in HEK293 cells significantly increased cell migration. The number of HEK293 cells expressing CRTC1-SS18 that migrated through 8 ?m pores in a Boyden chamber assay in 16 h was significantly increased compared to HEK293 cells transfected with a control plasmid. This was apparent by inspection by microscopy (at 4X magnification) and by a colorimetric assay