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Blood cancer, also known as hematologic malignancy, affects blood cell production and function, primarily in the bone marrow or lymphatic system, encompassing leukaemias, lymphomas, and multiple myeloma. This section focuses on leukemia, specifically Acute Myeloid Leukemia (AML), the most common acute leukemia in adults. AML involves rapid proliferation of immature myeloid blasts, which impair production of healthy red blood cells, platelets, and white blood cells, leading to systemic dysfunction. AML is classified into subtypes (M0-M7) based on cell morphology and genetics, with ~20,000 new US cases annually in 2025, predominantly in adults over 65.
AML symptoms develop rapidly (days to weeks) due to bone marrow failure, including profound fatigue, weakness, pale skin (from anemia), frequent or severe infections (from leukopenia), fever, easy bruising or bleeding (e.g., nosebleeds, gum bleeding, petechiae from thrombocytopenia), bone or joint pain, shortness of breath, and unintentional weight loss. Advanced cases may present with swollen gums, skin nodules (leukemia cutis), enlarged spleen/liver (hepatosplenomegaly), or rare central nervous system involvement (headaches, seizures). Symptoms mimic infections or autoimmune disorders, complicating early diagnosis.
AML arises from DNA mutations in myeloid stem cells, disrupting differentiation. Key risk factors include age (incidence peaks after 65), prior chemotherapy/radiation (therapy-related AML, 10-20% of cases), exposure to benzene or tobacco, genetic disorders (e.g., Down syndrome, Fanconi anemia), and pre-existing hematologic conditions like myelodysplastic syndromes (MDS). Specific mutations (FLT3-ITD, NPM1, IDH1/2) drive prognosis and treatment. Men are slightly more affected (1.3:1). In 2025, research highlights epigenetic alterations (e.g., DNA methylation) and bone marrow microenvironment changes as critical drivers of leukemogenesis.
Diagnosis begins with a complete blood count (CBC) revealing anemia, thrombocytopenia, and abnormal white cell counts, often with circulating blasts. Peripheral blood smear confirms blast presence, while bone marrow biopsy (aspiration or core) establishes AML if blasts exceed 20%. Flow cytometry identifies cell lineage (myeloid vs. lymphoid), and cytogenetic analysis detects chromosomal abnormalities (e.g., t(8;21), inv(16)). Molecular testing for FLT3, NPM1, IDH1/2, or CEBPA mutations guides risk stratification. Imaging (CT, MRI) evaluates extramedullary disease. In 2025, next-generation sequencing (NGS) and liquid biopsies for minimal residual disease (MRD) enhance diagnostic precision and relapse monitoring.
AML treatment is stratified by age, fitness, and genetics, typically in two phases: induction and consolidation. Induction chemotherapy (7+3 regimen: cytarabine + daunorubicin) aims for complete remission, achieved in 60-80% of younger patients and 40-60% of older patients. Consolidation uses high-dose chemotherapy or allogeneic stem cell transplant (SCT) for high-risk cases, improving long-term survival. Targeted therapies include FLT3 inhibitors (midostaurin, gilteritinib), IDH inhibitors (ivosidenib, enasidenib), and BCL2 inhibitors (venetoclax, often with azacitidine for unfit patients). Immunotherapy, including CAR-T cells and bispecific antibodies (e.g., blinatumomab), is emerging for relapsed/refractory AML, with trials showing 20-30% response rates. Supportive care (transfusions, antibiotics) manages complications. In 2025, novel agents like devimistat (CPI-613) achieve complete remissions in heavily pre-treated patients, and low-intensity regimens benefit elderly patients.
In 2025, AML’s 5-year survival is approximately 30% overall, with 60-70% for younger patients (<60 years) and 10-15% for those over 65. Favorable-risk subtypes (e.g., NPM1-mutated, core-binding factor AML) achieve up to 70% survival with targeted therapies. MRD-guided strategies reduce relapse rates by 15-20%. Research focuses on novel inhibitors (e.g., menin inhibitors for MLL-rearranged AML), bispecific T-cell engagers, and AI-driven drug discovery. By 2030, advances in gene editing (e.g., CRISPR for mutation correction) and personalized vaccines could increase overall survival to 50%, with emphasis on eradicating MRD and preventing relapse in high-risk groups.
The information for blood cancer is sourced from the National Cancer Institute’s “Acute Myeloid Leukemia Treatment (PDQ®)” for comprehensive details on understanding, symptoms, causes, diagnosis, and treatment; eCancer’s “New model to find treatments for an aggressive blood cancer” for 2025 advancements in AML models; MD Anderson’s “5 emerging therapies presented at ASCO 2025” for immunotherapy and targeted therapy updates; ASH Publications’ “Novel Devimistat Results in Complete Remissions in Heavily Pre-Treated Burkitt Lymphoma” for novel agent outcomes; and The Lancet’s “Diagnosis and treatment of Burkitt lymphoma in adults” for insights into related hematologic malignancies.
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