Analiza somatskih mutacij, fuzij in sprememb v številu kopij genov z metodo NGS v 203 različnih genih, značilnih za tumorje pri otrocih (Oncomine Childhood Cancer Research Assay)

  • geni z visoko frekvenco klinično pomembnih somatskih mutacij (skupaj 86 genov): ABL1, ABL2, ALK, ACVR1, AKT1, ASXL1, ASXL2, BRAF, CALR, CBL, CCND1, CCND3, CCR5, CDK4, CIC, CREBBP, CRLF2, CSF1R, CSF3R, CTNNB1, DAXX, DNMT3A, EGFR, EP300, ERBB2, ERBB3, ERBB4, ESR1, EZH2, FASLG, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, GATA2, GNA11, GNAQ, H3F3A, HDAC9, HIST1H3B, HRAS, IDH1, IDH2, IL7R, JAK1, JAK2, JAK3, KDM4C, KDR, KIT, KRAS, MAP2K1, MAP2K2, MET, MPL, MSH6, MTOR, MYC, MYCN, NCOR2, NOTCH1, NPM1, NRAS, NT5C2, PAX5, PDGFRA, PDGFRB, PIK3CA, PIK3R1, PPM1D, PTPN11, RAF1, RET, RHOA, SETBP1, SETD2, SH2B3, SH2D1A, SMO, STAT3, STAT5B, TERT, TPMT, USP7 in ZMYM3;
  • celotne kodirajoče regije genov (skupaj 44 genov): APC, ARID1A, ARID1B, ATRX, CDKN2A, CDKN2B, CEBPA, CHD7, CRLF1, DDX3X, DICER1, EBF1, EED, FAS, GATA1, GATA3, GNA13, ID3, IKZF1, KDM6A, KMT2D, MYOD1, NF1, NF2, PHF6, PRPS1, PSMB5, PTCH1, PTEN, RB1, RUNX1, SMARCA4, SMARCB1, SOCS2, SUFU, SUZ12, TCF3, TET2, TP53, TSC1, TSC2, WHSC1, WT1 in XIAP;
  • analiza spremembe števila kopij (skupaj 28 genov): ABL2, ALK, BRAF, CCND1, CDK4, CDK6, EGFR, ERBB2, ERBB3, FGFR1, FGFR2, FGFR3, FGFR4, GLI1, GLI2, IGF1R, JAK1, JAK2, JAK3, KIT, KRAS, MDM2, MDM4, MET, MYC, MYCN, PDGFRA in PIK3CA;
  • analiza prisotnosti fuzij (skupaj 92 genov): ABL1, ABL2, AFF3, ALK, BCL2, BCL11B, BCOR, BCR, BRAF, CAMTA1, CCND1, CIC, CREBBP, CRLF2, CSF1R, DUSP22, EGFR, ETV6, EWSR1, FGFR1, FGFR2, FGFR3, FLT3, FOSB, FUS, GLI1, GLIS2, HMGA2, JAK2, KAT6A, KMT2A, KMT2B, KMT2C, KMT2D, LMO2, MAML2, MAN2B1, MECOM, MEF2D, MET, MKL1, MLLT10, MN1, MYB, MYBL1, MYH11, MYH9, NCOA2, NCOR1, NOTCH1, NOTCH2, NOTCH4, NPM1, NR4A3, NTRK1, NTRK2, NTRK3, NUP214, NUP98, NUTM1, NUTM2B, PAX3, PAX5, PAX7, PDGFB, PDGFRA, PDGFRB, PLAG1, RAF1, RANBP17, RARA, RECK, RELA, RET, ROS1, RUNX1, SS18, SSBP2, STAG2, STAT6, TAL1, TCF3, TFE3, TP63, TSLP, TSPAN4, UBTF, USP6, WHSC1, YAP1, ZMYND11 in ZNF384;
  • analiza izražanja (skupaj 9 genov): BCL2, BCL6, FGFR1, FGFR4, IGF1R, MET, MYCN, MYC in TOP2A;
  • preiskava omogoča tudi oceno mutacijskega bremena tumorja.
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