Acute Myeloid Leukaemia (AML)

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This blog is for informational purposes only and should not be taken as medical advice. Content is sourced from third parties, and we do not guarantee accuracy or accept any liability for its use. Always consult a qualified healthcare professional for medical guidance.

What is Acute Myeloid Leukaemia?

Acute Myeloid Leukaemia (AML) is an aggressive blood cancer originating in the bone marrow, where abnormal myeloid stem cells produce excessive immature myeloblasts. These dysfunctional cells crowd out healthy red blood cells, platelets, and white blood cells, impairing oxygen transport, clotting, and immunity. AML is the most common acute leukaemia in adults, with a median onset age of 68, though it affects all ages. It is classified into subtypes (M0-M7) based on cell morphology and genetics, with mutations like FLT3, NPM1, and IDH shaping prognosis and treatment.

Symptoms

Symptoms develop rapidly over days to weeks due to bone marrow failure. Common signs include extreme fatigue, weakness, pale skin (from anaemia), frequent or severe infections (due to low functional white cells), fever, easy bruising or bleeding (e.g., nosebleeds, gum bleeding from thrombocytopenia), bone or joint pain, shortness of breath, and unintentional weight loss. Advanced cases may present with swollen gums, skin nodules (leukaemia cutis), or enlarged spleen/liver (hepatosplenomegaly). Rarely, central nervous system involvement causes headaches or neurological changes.

Causes

The precise cause of AML remains unclear, but it arises from DNA mutations in myeloid stem cells, disrupting normal differentiation. Risk factors include age (incidence rises after 65), prior chemotherapy or radiation (therapy-related AML), exposure to carcinogens like benzene or tobacco, genetic disorders (e.g., Down syndrome), and pre-existing blood disorders like myelodysplastic syndromes (MDS). Men are slightly more affected than women, and certain mutations (e.g., FLT3-ITD) are linked to worse outcomes. In 2025, research emphasizes how epigenetic changes and microenvironment factors drive AML progression.

Diagnosis

Diagnosis begins with a complete blood count (CBC) showing low red cells, platelets, and abnormal white cell counts, often with circulating myeloblasts. A bone marrow biopsy confirms AML if myeloblasts exceed 20% of marrow cells. Cytogenetic analysis identifies chromosomal abnormalities (e.g., t(8;21), inv(16)), while molecular testing detects mutations like FLT3, NPM1, or IDH1/2. Flow cytometry determines cell lineage and subtype. In 2025, advanced tools like next-generation sequencing and liquid biopsies for minimal residual disease (MRD) enhance precision in risk stratification and monitoring.

Treatment

Treatment is tailored to age, fitness, and genetic profile, typically involving two phases: induction and consolidation. Induction chemotherapy uses cytarabine and anthracyclines (e.g., daunorubicin) to achieve remission, with 60-80% success in younger patients. Consolidation includes high-dose chemo or allogeneic stem cell transplant (SCT) for high-risk cases. Targeted therapies include FLT3 inhibitors (midostaurin, gilteritinib), IDH inhibitors (ivosidenib, enasidenib), and BCL2 inhibitors (venetoclax) for specific mutations, improving remission rates to 70% in some groups. Immunotherapy, including CAR-T cells and bispecific antibodies, is emerging for relapsed/refractory AML. Supportive care (e.g., transfusions, antibiotics) manages complications. In 2025, low-intensity regimens like azacitidine + venetoclax benefit older patients.

Future Outlook

In 2025, AML’s 5-year survival is approximately 30% overall, with 60-70% for younger patients and 10-15% for those over 65. Targeted therapies and MRD-guided strategies have improved outcomes, particularly for favorable-risk subtypes (e.g., NPM1-mutated). Research focuses on novel inhibitors (e.g., menin inhibitors for MLL-rearranged AML), combination immunotherapies, and AI-driven drug discovery. By 2030, advances in gene editing (e.g., CRISPR) and personalized vaccines could push survival rates toward 50%, with reduced relapse through early MRD detection.

Sources

The information for AML is drawn from PubMed’s “Acute Myeloid Leukemia: 2025 Update on Diagnosis, Therapy, and Monitoring” for insights on diagnosis, targeted therapies, and 2025 advancements; BMJ Best Practice’s “Acute myeloid leukemia” for symptoms, causes, and diagnostic methods; NCBI StatPearls’ “Acute Myeloid Leukemia” for pathophysiology and treatment phases; Blood Journal’s “Diagnosis, prognostic factors, and assessment of AML in adults: 2024 ELN recommendations” for risk stratification and guidelines; and NCI’s “Acute Myeloid Leukemia Treatment (PDQ®)” for detailed treatment regimens and prognosis data.