Laboratory Evaluation of Acute Leukemia

Excerpt

Acute leukemia, which includes acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML), results from the malignant transformation of hematopoietic progenitor cells. This process leads to the accumulation of immature blasts in the bone marrow, disrupting normal hematopoiesis. Please see StatPearls' companion resource, "Acute Myeloid Leukemia," for more information.

This transformation is driven by a combination of genetic factors, such as inherited syndromes (eg, trisomy 21 and neurofibromatosis type 1) and acquired mutations (eg, FLT3, NPM1, and CEBPA), and environmental factors, including ionizing radiation, benzene exposure, and viral infections such as human T-lymphotropic virus type 1 (HTLV-1). Please see StatPearls' companion resource, "Leukemia," for more information.

The epidemiology of acute leukemia shows distinct patterns for ALL and AML, primarily influenced by age distribution. ALL is the most common malignancy in children, whereas AML is the predominant form of acute leukemia in adults. The complexity of the disease is further highlighted by its diverse classifications, including B-cell ALL (B-ALL), T-cell ALL (T-ALL), and various AML subtypes defined by specific genetic mutations.

Laboratory evaluation is crucial for diagnosing acute leukemia, which involves a comprehensive array of tests. Complete blood count (CBC) and peripheral blood smear (PBS) tests assess the quantity and morphology of blood cells. Bone marrow aspiration and biopsy (BMA/BMB) provide detailed information on bone marrow cellularity, morphology, the extent of reticulin fibrosis, iron storage, and blast percentage. Please see StatPearls' companion resource, "Laboratory Evaluation of Bone Marrow," for more information. Flow cytometry is used to identify cell surface markers, aiding in classifying leukemia subtypes.

Cytogenetic analysis, including karyotyping and fluorescence in situ hybridization (FISH), detects chromosomal abnormalities. Please see StatPearls' companion resource, "Genetics, Cytogenetic Testing And Conventional Karyotype," for more information. Molecular studies, such as polymerase chain reaction (PCR) and next-generation sequencing (NGS), identify specific gene mutations and translocations. Monitoring minimal residual disease (MRD) is crucial for timely intervention and treatment adjustments to prevent relapse. Effective collaboration among healthcare professionals ensures accurate result interpretation and optimal treatment strategies, ultimately improving patient outcomes and quality of life.