Informações gerais

Detalhes sobre o exame

Este exame é capaz de detectar simultaneamente todas as 4 classes de alterações genômicas para neoplasias hematológicas e sarcomas utilizando tecnologia de sequenciamento de nova geração (NGS), com base em captura híbrida. São sequenciados DNA de 406 genes e íntrons selecionados de 31 genes envolvidos em rearranjos, além de RNA de 265 genes envolvidos no câncer para melhor identificar fusões gênicas novas e/ou já conhecidas. São avaliados marcadores de imunoterapia MSI e TMB.

Material 
Amostras em tecidos (blocos de parafina ou lâminas histológicas).

Prazo para resultado

40 dias corridos.

Genes analisados

O Foundation-One HEME é um ensaio baseado em sequenciamento de nova geração (NGS) que identifica alterações genômicas em centenas de genes relacionados ao câncer.

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

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

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

Documentos necessários

Pedido médico, laudo de anatomia patológica, termo de consentimento e questionário do exame. Código interno: FOUNDATION-HEM.