Gene mutations in myeloid neoplasms and leukemia indicated for clinical testing
| Indication . | Single gene mutations . | Structural variants∗ . |
|---|---|---|
| MDS, MDS/MPN, cytopenia | ASXL1, BCOR, BCORL1, CBL, CEBPA, CSF3R, DDX41, DMNT3A, ETV6, ETNK1, EZH2, FLT3-ITD, FLT3-TKD, GATA2, GNB1, IDH1, IDH2, JAK2, KIT, KRAS, KMT2A-PTD, NF1, NPM1, NRAS, PHF6, PPM1D, PRPF8, PTPN11, RAD21, RUNX1, SAMD9†, SAMD9L†, SETBP1, SF3B1, SRSF2, STAG2, TET2, TP53, U2AF1, UBA1, WT1, ZRSR2 | |
| MPN and mastocytosis‡ | ASXL1, CALR, CBL, CSF3R, DNMT3A, EZH2, IDH1, IDH2 JAK2§, KIT, KRAS, MPL, NRAS, PTPN11, RUNX1, SETBP1, SF3B1, SH2B3, SRSF2, TET2, U2AF1, ZRSR2 | BCR::ABL1§ |
| Eosinophilia | ASXL1, CBL, DNMT3A, EZH2, KRAS, NRAS, RUNX1, SF3B1, SRSF2, STAT5B, TET2, U2AF1 | BCR::ABL1§, FGFR1::R, FLT3::R, JAK2::R, PDGFRA::R, PDGFRB::R |
| AML | Genes required for diagnosis and risk stratification: ASXL1, BCOR, CEBPA, DDX41, EZH2, FLT3-ITD§, FLT3-TKD§, IDH1§, IDH2§, NPM1, RUNX1, SF3B1, SRSF2, STAG2, TP53, U2AF1, ZRSR2 Additional genes recommended to test for at diagnosis and for use in disease monitoring: ANKRD26, BCORL1, BRAF, CBL, CSF3R, DNMT3A, ETV6, GATA2, JAK2, KIT, KRAS, NRAS, NF1, PHF6, PPM1D, PTPN11, RAD21, SETBP1, TET2, WT1 | BCR::ABL1§, CBFB::MYH11, DEK::NUP214 MECOM::R, KMT2A::R, NUP98::R, RUNX1::RUNX1T1, PML::RARA§ |
| B-ALL | CREBBP, CRLF2, FLT3, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK2, JAK3, KMT2D, KRAS, NF1, NRAS, PAX5, PTPN11, SETD2, SH2B3, TP53 | ABL1::R§, ABL2::R, CRLF2::R, CSF1R::R, DUX4::R, EPOR::R, ETV6::R, JAK2::R, KMT2A::R, MEF2D::R, NUTM1::R, PAX5::R, PDGFRA::R, PDGFRB::R, TCF3::R, ZNF384::R |
| T-ALL | DNMT3A, ETV6, EZH2, FBXW7, FLT3, IDH1, IDH2, IL7R, JAK1, JAK3, KRAS, MSH2, NOTCH1, NRAS, PHF6, PTEN, U2AF1, WT1 | BCL11B::R, LMO2::R, MYB::R, NUP::ABL1, NUP214::R, STIL::R, TAL::R, TLX1::R, TLX3::R |
| Indication . | Single gene mutations . | Structural variants∗ . |
|---|---|---|
| MDS, MDS/MPN, cytopenia | ASXL1, BCOR, BCORL1, CBL, CEBPA, CSF3R, DDX41, DMNT3A, ETV6, ETNK1, EZH2, FLT3-ITD, FLT3-TKD, GATA2, GNB1, IDH1, IDH2, JAK2, KIT, KRAS, KMT2A-PTD, NF1, NPM1, NRAS, PHF6, PPM1D, PRPF8, PTPN11, RAD21, RUNX1, SAMD9†, SAMD9L†, SETBP1, SF3B1, SRSF2, STAG2, TET2, TP53, U2AF1, UBA1, WT1, ZRSR2 | |
| MPN and mastocytosis‡ | ASXL1, CALR, CBL, CSF3R, DNMT3A, EZH2, IDH1, IDH2 JAK2§, KIT, KRAS, MPL, NRAS, PTPN11, RUNX1, SETBP1, SF3B1, SH2B3, SRSF2, TET2, U2AF1, ZRSR2 | BCR::ABL1§ |
| Eosinophilia | ASXL1, CBL, DNMT3A, EZH2, KRAS, NRAS, RUNX1, SF3B1, SRSF2, STAT5B, TET2, U2AF1 | BCR::ABL1§, FGFR1::R, FLT3::R, JAK2::R, PDGFRA::R, PDGFRB::R |
| AML | Genes required for diagnosis and risk stratification: ASXL1, BCOR, CEBPA, DDX41, EZH2, FLT3-ITD§, FLT3-TKD§, IDH1§, IDH2§, NPM1, RUNX1, SF3B1, SRSF2, STAG2, TP53, U2AF1, ZRSR2 Additional genes recommended to test for at diagnosis and for use in disease monitoring: ANKRD26, BCORL1, BRAF, CBL, CSF3R, DNMT3A, ETV6, GATA2, JAK2, KIT, KRAS, NRAS, NF1, PHF6, PPM1D, PTPN11, RAD21, SETBP1, TET2, WT1 | BCR::ABL1§, CBFB::MYH11, DEK::NUP214 MECOM::R, KMT2A::R, NUP98::R, RUNX1::RUNX1T1, PML::RARA§ |
| B-ALL | CREBBP, CRLF2, FLT3, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK2, JAK3, KMT2D, KRAS, NF1, NRAS, PAX5, PTPN11, SETD2, SH2B3, TP53 | ABL1::R§, ABL2::R, CRLF2::R, CSF1R::R, DUX4::R, EPOR::R, ETV6::R, JAK2::R, KMT2A::R, MEF2D::R, NUTM1::R, PAX5::R, PDGFRA::R, PDGFRB::R, TCF3::R, ZNF384::R |
| T-ALL | DNMT3A, ETV6, EZH2, FBXW7, FLT3, IDH1, IDH2, IL7R, JAK1, JAK3, KRAS, MSH2, NOTCH1, NRAS, PHF6, PTEN, U2AF1, WT1 | BCL11B::R, LMO2::R, MYB::R, NUP::ABL1, NUP214::R, STIL::R, TAL::R, TLX1::R, TLX3::R |
Conventional karyotype should be performed on all cases at diagnosis. Specific FISH, RT-PCR, or gene fusion NGS assays (targeted DNA/RNA or WGS) may be included depending on clinical context and results of other clinical studies.
Pediatric patients.
Mast cell disease with suspicion of associated hematologic neoplasm.
Food and Drug Administration–approved targeted therapy.