Acute Myeloid Leukemia Diagnosis and Management

Diagnosis

The diagnosis of AML requires ≥20% myeloblasts in bone marrow or peripheral blood, confirmed through a comprehensive workup including morphology, immunophenotyping, cytogenetics, and molecular testing 1, 2, 3
Peripheral blood and bone marrow examination should include complete blood count with differential, bone marrow aspirate, and examination of ≥500 nucleated cells on marrow smears containing spicules 1, 4, 5
Immunophenotyping using multiparameter flow cytometry (≥3-4 color) is mandatory to determine lineage involvement 1, 7, 4
Cytogenetic analysis is mandatory, with conventional cytogenetics on bone marrow and analysis of minimum 20 metaphase cells to establish normal karyotype 8, 7, 4
Molecular genetic testing is mandatory for CN-AML, including testing for NPM1, CEBPA, and FLT3 mutations 8, 7, 4

Favorable risk AML includes t(8;21), inv(16)/t(16;16), t(15;17), and mutated NPM1 without FLT3-ITD or with low FLT3-ITD allelic ratio 9, 3
Adverse risk AML includes complex karyotype, monosomal karyotype, inv(3)/t(3;3), t(6;9), and mutated TP53 1, 2, 3, 5
Age and comorbidity assessment is crucial, with patients >60 years having adverse prognosis, particularly with MDR-positivity or unfavorable genetics 9

Patients eligible for intensive therapy should receive induction chemotherapy with curative intent, while those with poor performance status or significant comorbidities should receive lower-intensity therapy or supportive care 9, 3
Pre-treatment considerations include emergency management, imaging and infection workup, and HLA typing on transplant candidates and family members 6, 9
Treatment approach by patient category includes intensive induction chemotherapy for fit patients, hypomethylating agents for older/unfit patients, and molecularly-targeted therapy for specific mutations 9, 3
Treatment setting should include full hematology and medical oncology services, close collaboration with bone marrow transplant unit, and adequate infectious disease services 9
Supportive care throughout treatment includes blood product transfusions, antimicrobial prophylaxis and treatment, and monitoring for chemotherapy-related complications 4, 9