Sobre o exame:

O FoundationOne® Heme fornece o diagnóstico do perfil genômico de forma abrangente e validada. É avaliada a sequência inteira de codificação de mais de 400 genes relacionados ao câncer, além de íntrons selecionados de 31 genes frequentemente rearranjados ou alterados nesses casos. Além do sequenciamento do DNA, o FoundationOne® Heme utiliza o sequenciamento do RNA em mais de 250 genes para capturar uma ampla gama de fusões gênicas, que são condutores comuns de doenças malignas hematológicas e sarcomas.

Genes analisados:

Sequência inteira de codificação (substituições de base, indels e alterações do número de cópias): ABL1; ACTB; AKT1; AKT2; AKT3; ALK; AMER1 (FAM123B ou WTX); APC; APH1A; AR; ARAF; ARFRP1; ARHGAP26(GRAF); ARID1A; ARID2; ASMTL; ASXL1; ATM; ATR; ATRX; AURKA; AURKB; AXIN1; AXL; B2M; BAP1; BARD1; BCL10; BCL11B; BCL2; BCL2L2; BCL6; BCL7A; BCOR; BCORL1; BIRC3; BLM; BRAF; BRCA1; BRCA2; BRD4; BRIP1 (BACH1); BRSK1; BTG2; BTK; BTLA; C11orf3O (EMSY); CAD; CALR; CARD11; CBFB; CBL; CCND1; CCND2; CCND3; CCNE1; CCT6B; CD22; CD274 (PD-L1); CD36; CD58; CD70; CD79A; CD79B; CDC73; CDH1; CDK12; CDK4; CDK6; CDK 8; CDKN1B; CDKN2A; CDKN2B; CDKN2C; CEBPA; CHD2; CHEK1; CHEK2; CIC; CIITA; CKS1B; CPS1; CREBBP; CRKL; CRLF2; CSF1R; CSF3R; CTCF; CTNNA1; CTNNB1; CUX1; CXCR4; DAXX; DDR2; DDX3X; DNM2; DNMT3A; DOTIL; DTX1; DUSP2; DUSP9; EBF1; ECT2L; EED; EGFR; ELP2; EP300; EPHA3; EPHA5; EPHA7; EPHB1; ERBB2; ERBB3; ERBB4; ERG; ESR1; ETS1; ETV6; EXOSC6; EZH2; FAF1; FAM46C; FANCA; FANCC; FANCD2; FANCE; FANCF; FANCG; FANCL; FAS (TNFRSF6); FBXO11; FBXO31; FBXW7; FGF10; FGF14; FGF19; FGF23; FGF3; FGF4; FGF6; FGFR1; FGFR2; FGFR3; FGFR4; FHIT; FLCN; FLT1; FLT3; FLT4; FLYWCH1; FOXL2; FOXO1; FOXO3; FOXP1; FRS2; GADD45B; GATA1; GATA2; GATA3; GID4 (C17orf39); GNA11; GNA12; GNA13; GNAQ; GNAS; GPR124; GRIN2A; GSK3B; GTSE1; HDAC1; HDAC4; HDAC7; HGF; HIST1H1C; HIST1H1D; HIST1H1E; HIST1H2AC; HIST1H2AG; HIST1H2AL; HIST1H2AM; HIST1H2BC; HIST1H2BJ; HIST1H2BK; HIST1H2BO; HIST1H3B; HNF1A; HRAS; HSP90AA1; ICK; ID3; IDH1; IDH2; IGF1R; IKBKE; IKZF1; IKZF2; IKZF3; IL7R; INHBA; INPP4B; INPP5D (SHIP); IRF1; IRF4; IRF8; IRS2; JAK1; JAK2; JAK3; JARID2; JUN; KAT6A (MYST3); KDM2B; KDM4C; KDM5A; KDM5C; KDM6A; KDR; KEAP1; KIT; KLHL6; KMT2A (MLL); KMT2C (MLL3); KMT2D (MLL2); RAS; LEF1; LRP1B; LRRK2; MAF; MAFB; MAGED1; MALT1; MAP2K1 (MEK1); MAP2K2 (MEK2); MAP2K4; MAP3K1; MAP3K14; MAP3K6; MAP3K7; MAPK1; MCL1; MDM2; MDM4; MED12; MEF2B; MEF2C; MEN1; MET; MIB1; MITF; MKI67; MLH1; MPL; MRE11A; MSH2; MSH3; MSH6; MTOR; MUTYH; MYC; MYCL (MYCL1); MYCN; MYD88; MYO18A; NCOR2; NCSTN; NF1; NF2; NFE2L2; NFKBIA; NKX2-1; NOD1; NOTCH1; NOTCH2; NPM1; NRAS; NT5C2; NTRK1; NTRK2; NTRK3; NUP93; NUP98; P2RY8; PAG1; PAK3; PALB2; PASK; PAX5; PBRM1; PC; PCBP1; PCLO; PD GDI (PD-1); PDCD11; PDCD1LG2 (PD-L2); PD GFRA; PDGFRB; PDK1; PHF6; PIK3CA; PIK3CG; PIK3R1; P/IK3R2; PIM1; PLCG2; POT1; PPP2R1A; PRDM1; PRKAR1A; PRKDC; PRSS8; PTCH1; PTEN; PTPN11; PTPN2; PTPN6 (SHP-1); PTPRO; RAD21; RAD50; RAD51; RAF1; RARA; RASGEF1A; RBI; RELN; RET; RHOA; RICTOR; RNF43; ROS7; RPTOR; RUNX7; S1PR2; SDHA; SDHB; SDHC; SDHD; SERP2; SETBP1; SETD2; SF3B1; SGK1; SMAD2; SMAD4; SMARCA1; SMARCA4; SMARCB1; SMC1A; SMC3; SMO; SOCS1; SOCS2; SOCS3; SOX10; SOX2; SPEN; SPOP; SRC; SRSF2; STAG2; STAT3; STAT4; STAT5A; STAT5B; STAT6; STK11; SUFU; SUZ72; TAF1; TBL1XR1; TCP3 (E2A); TCL1A (TCU); TET2; TGFBR2; TLL2; TMEM30A; TMSB4XP8 (TMSL3); TNFAIP3; TNFRSF11A; TNFRSF14; TNFRSF17; TOPI; TP53; TP63; TRAF2; TRAF3; TRAF5; TSC1; TSC2; TSHR; TUSC3; TTKZ; U2AF1; U2AF2; VHL; WDR90; WHSC1 (MMSET ou NSD2); WISP3; WT1; XBP1; XPO1; YY1AP1; ZMYMJ; ZNF217; ZNF24 (ZSCAN3); ZNF703; ZRSR2. Fusões de genes de RNA selecionados: ABl1; ABL1; ABL2; ACSL6; AFF1; AFF4; ALK; ARHGAP26 (GRAF); ARHGEF12; ARID1A; ARNT; ASX1L1; ATF1; ATG5 ATIC; BCL10 BCL11A; BCL11B; BCL2; BCL3; BCL6; BCL7A; BCL9; BCOR; BCR; BIRC3; BRAF; BTG1; CAMTA1; CARS; CBFA2T3; CBFB; CBL; CCND1; CCND2; CCND3; CD274 (PD-U); CDK6; CDX2; CHIC2; CHN1; CIC; CIITA; CLP1; CLTC; CLTCLI; CNTRL (CEP110); COL1A1; CREB3L1; CREB3L2; CREBBP; CRLF2; CSF1; CTNNB1; DDIT3; DDX10; DDX6; DEK; DUSP22; EGFR; EIF4A2; ELF4; ELL; ELN; EML4; EP300; EPOR; EPS15; ERBB2; ERG; ETS1; ETV1; ETV4; ETV5; ETV6; EWSR1; FCGR2B; FCRL4; FEV; FGFR1; FGFRIOP; FGFR2; FGFR3; FLI1; FNBP1; FOXO1; FOXO3; FOXO4; FOXP1; FSTL3; FUS; GAS7; GLI1; GMPS; GPHN; HERPUD1; HEY1; HIP1; HIST1H4I; HLF; HMGA1; HMGA2; HOXA11; HOXA13; HOXA3; HOXA9; HOXC11; HOXC73; HOXD11; HOXD13; HSP90AA1; HSP90ABI; IGH; IGK; IGL; IKZF1; IL21R; IL3; IRF4; ITK; JAX7; JAK2; JAK3; JAZF1; KAT6A (MYST3); KDSR; KIF5B; KMT2A (MLL); LASP1; LCP1; LMOI; LMO2; LPP; LYL1; MAF; MAFB; MALT1; MDS2; MECOM; MKL1; MLF1; MLLT1 (END); MLLT10 (AF10); MLLT3; MLLT4 (AF6); MLLT6; MN1; MNX1; MSI2; MSN; MUC1; MYB; MYC; MYH11; MYH9; NACA; NBEAP1 (BCL8); NCOA2; NDRG1; NF1; NF2; NFKB2; NIN; NOTCH1; NPM1; NR4A3; NSD1; NTRK1; NTRK2; NTRK3; NUMA1; NUP214; NUP98; NUTM2A; OMD; P2RYB; PAFAH1B2; PAX3; PAX5; AAX7; PBX1; PCM1; PCSX7; PDCD1LG2 (PD-L2); PDE4DIP; PDGFB; PDGFRA; PDGFRB; PER1; PHF1; PICALM; PIM1; PLAG1; LMP; POU2AF1; PPP1CB; PRDM1; PRDM16; PRRXJ; PSIP1; PTCH1; PTK7; RABEP1; RAF1; RALGDS; RAP1GDS1; RARA; RBM15; RET; RHOH; RNF213; ROS1; RPL22; RPN1; RUNX1; RUNX1T1 (ETO); PLWXZ; SEC31A; SEPT5; SEPT6; SEPT9; SET; SH3GL1; SLC7A2; SNX29 (RUNDC2A); SRSF3; SS18; SSX1; SSX2; SSX4; STAT6; STL; SMC; TAF15; TALI; TAL2; TBL1XR1; TCF3 (E2A); TCL1A (TCL1); TEC; TET1; TFE3; TFG; TFPT; TFRC; TLX1; TLX3; TMPRSS2; TNFRSF11A; TOPI; TP63; TPM3; TPM4; TRIM24; TRIPP; TTL; TYK2; USP6; WHSC1 (MMSET ou NSD2); WHSC1L1; YPEL5; ZBTB16; ZMXMZ; ZNF384; ZNF521. Rearranjos Selecionados do DNA3: ALK; BCL2; BCL6; BCR; BRAF; CCND1; CRLF2; EGFR; EPOR; ETV1; ETV4; ETV5; ETV6; EWSR1; FGFR2; IGH; G/C; IGL; JAK1; JAK2; KMT2A (MLL); MYC; NTRK1; PDGFRA; PDGFRB; RAF1; RARA; RET; ROS1; TMPRSS2; TRG.