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Hematologia

FoundationOne® Heme

Perfil genético abrangente para análise de variantes somáticas em 406 genes, associadas a neoplasias hematológicas e sarcomas, com foco no tratamento personalizado para cada paciente.

⏱ Resultado em 40 dias

📋 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).

🧬 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, ZRSR2Rearranjos 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, TRGFusões 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

📌 Informações práticas

Preparo: .

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

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