Hematological Malignancies - AML Overview

A type of cancer that affects the blood and bone marrow, characterized by the overproduction of immature white blood cells.

Leukaemia that has a rapid onset, is characterized by immature cells, and is more common in children and adults.

Leukaemia that has a slower onset, is characterized by more mature cells, and is more common in adults.

A type of acute leukaemia that affects myeloid cells, which differentiate into various blood cells.

A classification system for leukaemia based on the morphology and staining characteristics of the cells.

A classification system for leukaemia based on a combination of cell morphology, immunophenotype (surface markers), and genetics.

The likelihood of a patient's survival after diagnosis with a specific type of cancer.

Different methods of treating leukaemia, tailored to the specific type of leukaemia.

The study and classification of cells based on their external appearance (shape, size, etc.).

The detection and identification of surface proteins or antigens on cells using antibodies.

Acute myeloid leukemia (AML) is a type of cancer of the blood and bone marrow where there is an abnormal overgrowth of immature myeloid cells. These cells are unable to mature properly, leading to a buildup of immature blasts in the bone marrow.

AML exhibits a wide range of characteristics, leading to diverse clinical presentations and varying responses to treatment.

The World Health Organization (WHO) established a classification system for AML in 2016, relying on a combination of morphologic and cytogenetic criteria. Among these criteria, a key indicator is the presence of at least 20% blasts in the bone marrow or peripheral blood.

The translocation t(15;17) is a specific genetic abnormality observed in a subset of AML patients, known as acute promyelocytic leukemia (APL). This translocation results in the fusion of the PML and RARA genes, forming the PML-RARA fusion protein.

The fusion protein resulting from the t(15;17) translocation, PML-RARA, functions abnormally as a transcriptional repressor. This means it interferes with the normal regulation of gene expression, preventing proper maturation of the myeloblasts beyond the promyelocyte stage.

Classic symptoms of AML often include fatigue, pallor, recurrent infections, easy bruising, excessive bleeding, and swollen gums.

A complete blood count (CBC) is a routine blood test used to evaluate the number and types of blood cells present. In AML patients, the CBC often reveals abnormal values, indicative of the disease.

The peripheral blood film is an examination of a stained blood smear under a microscope, allowing identification of individual blood cells. In AML, the film often reveals an increased percentage of blasts, often accompanied by Auer rods.

Genetic testing plays a pivotal role in the diagnosis and management of AML. Techniques such as reverse transcriptase-polymerase chain reaction (rt-PCR) are used to detect specific genetic abnormalities, such as the t(15;17) translocation associated with acute promyelocytic leukemia (APL).

The diagnosis of AML is typically achieved through a combination of laboratory tests, including a complete blood count, peripheral blood film, and genetic analysis. Together, these tests provide evidence of the characteristic features of AML, supporting a definitive diagnosis.

Leukaemia is a cancer that affects the blood and bone marrow, characterized by the overproduction of abnormal white blood cells.

Acute leukaemia has a rapid onset and affects immature white blood cells. It's more common in children and adults.

Chronic leukaemia has a slower onset and affects more mature white blood cells.

The FAB classification system classified leukaemia based on cell morphology and staining characteristics. It was used historically.

The WHO classification system categorizes leukaemia based on morphology, immunophenotype, and genetics. It's the current standard.

Classifying leukaemias is crucial because different types have different prognoses and require different treatment regimens.

Morphology refers to the study and classification of cells based on their external appearance, like shape and size.

Immunophenotyping identifies surface proteins or antigens on cells using antibodies. It helps categorize leukaemia subtypes.

A specific genetic change in AML, involving a swap of parts between chromosomes 15 and 17. Leads to a fusion protein that hinders normal cell development.

The fusion protein formed from the t(15;17) translocation. This protein blocks the normal pathway of cell maturation, leading to buildup of immature cells.

A common symptom of AML. The patient experiences excessive tiredness, usually due to low red blood cell count.

A common symptom of AML. The patient experiences frequent infections. Due to the low white blood cell count, especially neutrophils.

A common symptom of AML. Patient bruises easily due to low platelet count, making bleeding more likely.

A common symptom of AML. The patient experiences bleeding gums due to the low platelet count, which helps blood clot.

A blood test that measures the number and types of blood cells. It's an important diagnostic tool for AML.

A microscopic examination of a blood smear. It can identify the abnormal blasts seen in AML, and may show abnormal granules called Auer rods.

A diagnostic test for AML that examines the genetic makeup of cells. It can detect specific genetic changes like the t(15;17) translocation.