Blood journal March 2025
Case presentation AML:
@age @gender fit/ frail with the following comorbidities:... presented to PCP/ER with 1 month/ week of reduced exercise tolerance/ petechiae/ mucosal bleeding/ fever, weight loss.
WBC- count wth ...% blasts in the peripheral blood.
Hb-- severe anemia, requiring "x" units transfusion in the ED, plt count of ---
Rapid FISH to rule out APL and corebinding factor rearrangements--
peripheral smear showed--
Rapid molecular testing- FLT3, NPM1, IDH1/2
Myeloid NGS-
bmbx -
Other tests: uric acid, blood c/s, fibrinogen, PT/PTT
Treatment started: standard induction or AZA- VEN
Newly diagnosed AML- change in threshold for blasts. 10% or higher qualifies as AML except for CML/ph+ when 10-19% is considered accelerated phase.
There is a hierarchy: recurrent genetic abnormalities, TP 53 mutated, AML with MDS/MPN high risk mutations, AML is MDS associated cytogenetic abnormalities, AML/MDS unspecified.
Newly diagnosed AML ELN 2022
Reference:
ELN risk classification for patients receiving less-intensive therapies (ELN 2024 Less-Intensive)
| Risk category | Genetic abnormality |
|---|
| Favorable | Mutated NPM1 (FLT3-ITDneg, NRASwt, KRASwt, TP53wt) Mutated IDH2 (FLT3-ITDneg, NRASwt, KRASwt, TP53wt) Mutated IDH1∗ (TP53wt) Mutated DDX41†, Other cytogenetic and/or molecular abnormalities‡ (FLT3-ITDneg, NRASwt, KRASwt, TP53wt) |
| Intermediate | Other cytogenetic and molecular abnormalities‡ (FLT3-ITDpos and/or NRASmut and/or KRASmut; TP53wt) |
| Adverse | Mutated TP53 |