Table 3

Test/procedures in the initial work-up of a patient with AML

Test/procedureGeneral practiceClinical trial
Tests to establish the diagnosis   
    Complete blood counts and differential count Yes Yes 
    Bone marrow aspirate Yes Yes 
    Bone marrow trephine biopsy Optionalf Optionalf 
    Immunophenotyping Yes Yes 
    Cytogenetics Yes Yes 
    RUNX1-RUNX1T1, CBFB-MYH11, PML-RARA, or other gene fusion screening Optionalg Optionalg 
Additional tests/procedures at diagnosis   
    Demographics and medical historya Yes Yes 
    Performance status (ECOG/WHO score) Yes Yes 
    Analysis of comorbidities Yes Yes 
    Biochemistry, coagulation tests, urine analysisb Yes Yes 
    Serum pregnancy testc Yes Yes 
    Information on oocyte and sperm cryopreservation Optionalh Optionalh 
    Eligibility assessment for allogeneic HSCT Yesi Yesi 
    Hepatitis A, B, C; HIV-1 testing Yes Yes 
    Chest x-ray, 12-lead ECG; echocardiography (on indication) Yes Yes 
    Lumbar punctured No No 
    Biobankinge Optionalj Yes 
Prognostic/predictive marker assessment   
    NPM1, CEBPA, FLT3 gene mutation Optionalk Yes 
    WT1, RUNX1, MLL, KIT, RAS, TP53, TET2, IDH1 gene mutation No Investigational 
    ERG, MN1, EVI1, BAALC gene expression No Investigational 
    Detection of minimal residual disease No Investigational 
Test/procedureGeneral practiceClinical trial
Tests to establish the diagnosis   
    Complete blood counts and differential count Yes Yes 
    Bone marrow aspirate Yes Yes 
    Bone marrow trephine biopsy Optionalf Optionalf 
    Immunophenotyping Yes Yes 
    Cytogenetics Yes Yes 
    RUNX1-RUNX1T1, CBFB-MYH11, PML-RARA, or other gene fusion screening Optionalg Optionalg 
Additional tests/procedures at diagnosis   
    Demographics and medical historya Yes Yes 
    Performance status (ECOG/WHO score) Yes Yes 
    Analysis of comorbidities Yes Yes 
    Biochemistry, coagulation tests, urine analysisb Yes Yes 
    Serum pregnancy testc Yes Yes 
    Information on oocyte and sperm cryopreservation Optionalh Optionalh 
    Eligibility assessment for allogeneic HSCT Yesi Yesi 
    Hepatitis A, B, C; HIV-1 testing Yes Yes 
    Chest x-ray, 12-lead ECG; echocardiography (on indication) Yes Yes 
    Lumbar punctured No No 
    Biobankinge Optionalj Yes 
Prognostic/predictive marker assessment   
    NPM1, CEBPA, FLT3 gene mutation Optionalk Yes 
    WT1, RUNX1, MLL, KIT, RAS, TP53, TET2, IDH1 gene mutation No Investigational 
    ERG, MN1, EVI1, BAALC gene expression No Investigational 
    Detection of minimal residual disease No Investigational 
a

Including race or ethnicity, family history, prior exposure to toxic agents, prior malignancy, therapy for prior malignancy, information on smoking.

b

Biochemistry: glucose, sodium, potassium, calcium, creatinine, aspartate amino transferase (AST), alanine amino transferase (ALT), alkaline phosphatase, lactate dehydrogenase, bilirubin, urea, total protein, uric acid, total cholesterol, total triglycerides, creatinine phosphokinase (CPK). Coagulation tests: prothrombin time (PTT), international normalized ratio (INR) where indicated, activated partial thromboplastin time (aPTT). Urine analysis: pH, glucose, erythrocytes, leukocytes, protein, nitrite.

c

In women with childbearing potential.

d

Required in patients with clinical symptoms suspicious of central nervous system involvement; patient should be evaluated by imaging study for intracranial bleeding, leptomeningeal disease, and mass lesion; lumbar puncture considered optional in other settings (eg, high WBC).

e

Pretreatment leukemic bone marrow and blood sample; for further optional storing see section 4.7.

f

Mandatory in patients with a dry tap (punctio sicca).

g

Should be performed if chromosome morphology is of poor quality, or if there is typical morphology but the suspected cytogenetic abnormality is not present.

h

Cryopreservation to be done in accordance with the wish of the patient.

i

HLA typing and CMV testing should be performed in those patients eligible for allogeneic stem cell transplantation.

j

Biobanking should also be performed in general practice if at all possible.

k

Strongly encouraged in AML with normal karyotype.

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