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Leung et al. J Transl Genet Genom 2023;7:79-86 https://dx.doi.org/10.20517/jtgg.2023.09 Page 71

Table 1. 2022 European LeukemiaNet (ELN) risk classification by genetics at initial diagnosis [21]
Risk category Genetic abnormality
Favorable RUNX1::RUNX1T1 [t(8;21)]
CBFB::MYH11 [Inv(16)]
Mutated NPM1 without FLT3-ITD
bZIP in-frame mutated CEBPA
Intermediate FLT3-ITD
MLLT3::KMT2A [t(9;11)]
Cytogenetic or mutations not classified as favourable or adverse
Adverse DEK::NUP214 [t(6;9)]
KMT2A rearranged (other than MLLT3::KMT2A)
BCR::ABL1 [t(9;22)]
KAT6A::CREBBP [t(8;16)]
MECOM(EVI1) rearranged [incl. Inv(3)]
ASXL1, BCOR, EZH2, RUNX1, SF3B1, SRSF2, STAG2, U2AF1, ZRSR2, TP53
Complex and/or monosomy karyotype
-5/del(5q); -7; -17/abn(17p)

Figure 3. Workflow of myeloid focused next-generation sequencing.

or molecular means can achieve a sensitivity of at least 10 , and a persistently negative MRD during the
-3
course of treatment can predict disease eradication and long-term survival. In most tertiary centers, MRD is
evaluated by either one of two methods. Flow cytometry offers a more rapid evaluation of patient samples
but requires a higher level of technical expertise and standardization. Molecular methods are widely used
and encompass quantitative RT-PCR, droplet digital PCR, and NGS platforms, choices of which often
depend on institutional experience and expertise and the genes of interest.

PERSONALIZED APPROACH OF AML TREATMENT – FUTURE PERSPECTIVE
An important question in AML management is whether personalized treatment based on genomic
information of individual patients, if available, would confer benefits to patients over the one-size-fits-all
approach based on the “standard of care” (SOC). This is being addressed by the Beat AML trial, in which
untreated patients older than 60 years received either the SOC or clinical studies founded on the mutation