Table 4.
Tests/procedures for a patient with AML
For a patient with AML | |
---|---|
Tests to establish the diagnosis | Additional tests/procedures at diagnosis (cont'd) |
Complete blood count and differential count | Analysis of comorbidities |
Bone marrow aspirate | Biochemistry, coagulation tests, urine analysis** |
Bone marrow trephine biopsy* | Serum pregnancy test†† |
Immunophenotyping | Information on oocyte and sperm cryopreservation‡‡ |
Genetic analyses | Eligibility assessment for allogeneic HCT (including HLA typing)a |
Cytogenetics† | Hepatitis A, B, C; HIV-1 testing |
Screening for gene mutations including‡ | Chest radiograph, 12-lead electrocardiogram, and echocardiography or MUGA (on indication) |
NPM1, CEBPA, RUNX1, FLT3, TP53, ASXL1 | Lumbar punctureb |
Screening for gene rearrangements§ | Biobankingc |
PML-RARA, CBFB-MYH11, RUNX1-RUNX1T1, BCR-ABL1, other fusion genes (if available) | Sensitive assessment of response by RT-qPCR or MFCd |
Additional tests/procedures at diagnosis | RT-qPCRe,f for NPM1 mutation, CBFB-MYH11, RUNX1-RUNX1T1, BCR-ABL1, other fusion genes (if available)d |
Demographics and medical history|| | MFCf,g |
Detailed family history¶ | |
Patient bleeding history# | |
Performance status (ECOG/WHO score) |
CMV, cytomegalovirus; ECOG, Eastern Cooperative Oncology Group; MUGA, multigated acquisition.
In patients with a dry tap (punctio sicca).
Results from cytogenetics should be obtained preferably within 5 to 7 days. At least 20 bone marrow metaphases are needed to define a normal karyotype, and recommended to describe an abnormal karyotype. Abnormal karyotypes may be diagnosed from blood specimens.
Results from NPM1 and FLT3 mutational screening should be available within 48 to 72 hours (at least in patients eligible for intensive chemotherapy), and results from additional molecular genetics within the first treatment cycle. Screening for gene mutations is an evolving field of research; screening for single genes may be replaced by gene panel diagnostics.
Screening for gene rearrangements should be performed if rapid information is needed for recommendation of suitable therapy, if chromosome morphology is of poor quality, or if there is typical morphology but the suspected cytogenetic abnormality is not present.
Including race or ethnicity, prior exposure to toxic agents, prior malignancy, therapy for prior malignancy, information on smoking.
Thorough family history needed to identify potential myeloid neoplasms with germ line predisposition.
History of bleeding episodes may inform cases of myeloid neoplasms with germ line predisposition and preexisting platelet disorders.
Biochemistry: glucose, sodium, potassium, calcium, creatinine, aspartate amino transferase, alanine amino transferase, alkaline phosphatase, lactate dehydrogenase, bilirubin, urea, total protein, uric acid, total cholesterol, total triglycerides, creatinine phosphokinase. Coagulation tests: prothrombin time, international normalized ratio where indicated, activated partial thromboplastin time. Urine analysis: pH, glucose, erythrocytes, leukocytes, protein, nitrite.
In women with childbearing potential.
Cryopreservation to be done in accordance with the wish of the patient.
HLA typing and CMV testing should be performed in those patients eligible for allogeneic HCT.
Required in patients with clinical symptoms suspicious of CNS 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 white blood cell count).
Pretreatment leukemic bone marrow and blood sample; for further optional storing, see “Biobanking.”
Sensitive assessment of response can be performed at early time points, for example, following induction and consolidation courses to assess remission status and determine kinetics of disease response, and sequentially beyond consolidation to detect impending morphologic relapse. No generally applicable time points can be defined because kinetics of MRD response differs by treatment given, marker analyzed, and method used.
Monitoring of response by RT-qPCR recommended in clinical trials and clinical practice.
Sensitivity of response assessment varies by method used, and by marker tested; test used and sensitivity of the assay should always be reported; analyses should be done in experienced laboratories (centralized diagnostics).
Increasing evidence that response assessment by MFC qualitatively provides a better remission status than morphologic assessment and is of high prognostic impact.