I can diagnose

Mutations in AML

AML is a complex and dynamic disease characterized by numerous driver mutations, i.e. acquired somatic mutations and competitive clones that contribute to the development of the disease over time.^[1]

Conventional cytogenetic analysis is mandatory if a diagnosis of AML is suspected.^[4]

CMV: cytomegalovirus; ECOG: Eastern Cooperative Oncology Group; MUGA: multigated acquisition.

* In patients with dry tap.
† Cytogenetic results should preferably be obtained within 5-7 days. At least 20 bone marrow metaphases are needed to define a normal karyotype and it is advisable to describe an abnormal karyotype. Abnormal karyotypes can be diagnosed from blood samples.
‡ NPM1 and FLT3 mutation screening results must be available within 48-72 hours (at least in patients eligible for intensive chemotherapy), and further molecular genetic results must be available in the first cycle of treatment. Screening for gene mutations is an evolving field of research; screening for individual genes can be replaced by diagnostic gene sequencing panels.
§ Screening for gene rearrangements should be performed if quick information is needed in order to recommend an appropriate therapy, if the chromosomal morphology is of poor quality, or if there is a typical morphology, but the suspected cytogenetic anomaly is not present.
|| Including race or ethnicity, previous exposure to toxic agents, previous malignancies, treatment of previous malignancies, information on smoking.
¶ A detailed family history is necessary to identify potential myeloid malignancies with predisposition in the germ line.
# A history of bleeding episodes may signal cases of myeloid malignancies with predisposition in the germ line and pre-existing platelet disorders.
** Biochemistry: glucose, sodium, potassium, calcium, creatinine, aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase, lactate dehydrogenase, bilirubin, urea, total proteins, uric acid, total cholesterol, total triglycerides, creatinine phosphokinase. Coagulation tests: prothrombin time, international normalised ratio where indicated, activated partial thromboplastin time. Urinalysis: pH, glucose, erythrocytes, leucocytes, proteins, nitrites.
†† In women of childbearing age.
‡‡ Cryopreservation must be performed according to the patient's wishes.
a HLA typing and CMV testing must be performed in patients who are eligible for allogeneic HCT.
b Necessary in patients with clinical symptoms arousing the suspicion of CNS involvement; the patient must be evaluated by imaging in the case of intracranial bleeding, leptomeningeal disease and mass lesion; the lumbar puncture is considered optional in other settings (for example: high white blood cell count).
c Pre-treatment of leukaemic bone marrow and of the blood sample; for another storage option, see "Biobanking".
d A sensitive response evaluation can be performed in advance, for example after induction and consolidation cycles to evaluate the state of remission and determine the kinetics of the response to the disease and sequentially in addition to consolidation to detect imminent morphological recurrence. It is not possible to define the generally applicable time points because the MRD response kinetics differ according to the treatment administered, the marker analysed and the method used.
e Monitoring of the response by RT-qPCR recommended in clinical trials and clinical practice.
f The sensitivity of the response evaluation varies according to the method used and the marker tested; the test used and the sensitivity of the assay must always be reported; analyses should be performed in experienced laboratories (centralised diagnostic services).
g There is increasing evidence that evaluation of the response by MFC provides a qualitatively better state of remission than morphological evaluation and has a high prognostic impact.