Clinical tiering schema for SVs/fusions
| Tier . | Definition . | AMP examples . | CBA examples . |
|---|---|---|---|
| 1 | SVs/fusions with known diagnostic or prognostic significance supported by clinical guidelines according to the WHO fifth edition, 2022 ELN, ICC, and NCCN | PML::RARA, BCR::ABL1, KMT2A::r | t(15;17)(q24;q21), t(9;22)(q34;q11.2), t(9;11)(p21;q23) |
| 2 | SVs/fusions with possible clinical significance but not incorporated into existing clinical guidelines | KMT2A-PTD, PICALM::MLLT10, STIL::TAL1 | Dic(9;20)(p13;q11.2) Hsr(11)(q23) 1∼26 dmin |
| 3 | SVs/fusions of unknown clinical significance | RUNX1::WASF3, FOXJ2::ETV6 HMGN2::NF1 | Inv(1)(p23q21), t(1;4)(q32;qq25), add(2)(p21) |
| 4 | SVs/fusions known to be population polymorphisms | GPR128::TFG | Inv(9)(p12q13) |
| 5 | No SVs/fusions detected | — | — |
| Tier . | Definition . | AMP examples . | CBA examples . |
|---|---|---|---|
| 1 | SVs/fusions with known diagnostic or prognostic significance supported by clinical guidelines according to the WHO fifth edition, 2022 ELN, ICC, and NCCN | PML::RARA, BCR::ABL1, KMT2A::r | t(15;17)(q24;q21), t(9;22)(q34;q11.2), t(9;11)(p21;q23) |
| 2 | SVs/fusions with possible clinical significance but not incorporated into existing clinical guidelines | KMT2A-PTD, PICALM::MLLT10, STIL::TAL1 | Dic(9;20)(p13;q11.2) Hsr(11)(q23) 1∼26 dmin |
| 3 | SVs/fusions of unknown clinical significance | RUNX1::WASF3, FOXJ2::ETV6 HMGN2::NF1 | Inv(1)(p23q21), t(1;4)(q32;qq25), add(2)(p21) |
| 4 | SVs/fusions known to be population polymorphisms | GPR128::TFG | Inv(9)(p12q13) |
| 5 | No SVs/fusions detected | — | — |
dmin, double minutes; ELN, European Leukemia Net; ICC, International Consensus Classification; NCCN, National Comprehensive Cancer Network; WHO, World Health Organization.