Analiza fuzij z metodo NGS v sarkomih in drugih tumorjih s translokacijami (FusionPlex Sarcoma ali FusionPlex Sarcoma Expanded)

FusionPlex Sarcoma

  • fuzije (skupaj 24 genov, z znanimi in neznanimi partnerji): ALK, CAMTA1, CCNB3, CIC, EPC, EWSR1, FKHR, FUS, GLI1, HMGA2, JAZF1, MEAF6, MKL2, NCOA2, NTRK3, PDGFB, PLAG1, ROS1, SS18, STAT6, TAF15, TCF12, TFE3, TFG, USP6, YWHAE;

 

FusionPlex Sarcoma Expanded

  • fuzije (skupaj 53 genov): ALK, BCOR, BRAF, CAMTA1, CIC, CSF1, EGFR, EPC1, ERG, ESR1, EWSR1, FGFR1, FGFR2, FGFR3, FOS, FOSB, FOXO1, FUS, GLI1, HMGA2, JAZF1, MDM2, MEAF6, MET, MGEA5, MKL2, NCOA1, NCOA2, NR4A3, NTRK1, NTRK2, NTRK3, NUTM1, PAX3, PDGFB, PHF1, PLAG1, PRKCA, PRKCB, PRKCD, RAF1, RET, ROS1, SS18, STAT6, TAF15, TCF12, TFE3, TFG, USP6, VGLL2, YAP1, YWHAE;
  • somatske mutacije v tarčnih regijah genov z visoko frekvenco mutacij (hotspots, 13 genov): ALK, BRAF, CTNNB1, EGFR, FGFR1, FGFR2, FGFR3, MYOD1, NTRK1, NTRK2, NTRK3, RET, ROS1.