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To diagnose acute myeloid leukaemia doctors use tests to examine the blood and bone marrow and demonstrate the presence of tumour cells.
Tests and procedures for diagnosing Acute Myeloid Leukaemia
Physical exam and medical history. A medical examination is carried out to identify the signs of this or any other disease. Data on the patient’s lifestyle and eating habits is also recorded, along with that of their family, history of diseases and the treatments applied in each case.
Complete blood work.
Peripheral blood smear. Procedure for analysing and examining a blood sample under the microscope and observing whether there are any blood cell abnormalities.
Bone marrow sample. To obtain a sample of bone marrow tissue the following steps are followed:
Bone marrow aspiration. Blood is drawn from the bone marrow through a needle that is inserted into the inside of the bone to take a small sample. The procedure is performed under local anaesthetic, and the sample is usually taken from the breastbone or hip.
Bone marrow biopsy. This test is appropriate only in a few cases. It involves removing a small sample of bone, usually from the hip, and normally requires the patient to be sedated.
Numerous tests are carried out on this bone marrow sample, to not only diagnose AML, but also classify and typify it in detail, since some cytogenetic alterations (specific chromosomal abnormalities) and molecular changes (DNA modifications) provide more specific information on the type of AML, the prognosis, and the most appropriate treatment. This data is also useful for monitoring the disease, for which other tests are also performed:
Cytological analysis. In this study, the appearance of cells is observed under a microscope.
Cytogenetic analysis. The chromosomes of the cells are viewed under a microscope.
Immunophenotype. This is used to diagnose the subtype of AML by comparing the blasts of normal cells, based on the analysis of cell surface markers.
Reverse transcription polymerase chain reaction (RT-PCR). This test determines whether there are certain changes in the structure of the genes.
Lumbar puncture. Sometimes it is also necessary to study whether the disease has spread to the central nervous system (CNS), so a lumbar puncture is performed to analyse whether immature cells (blasts) can be identified in the cerebrospinal fluid, which bathes the CNS.