Acute Leukaemias (AML & ALL)
• Symptoms: fatigue (anaemia), infections (neutropenia), bleeding (thrombocytopenia)
• Diagnosis: >20% blasts in bone marrow
Acute Myeloid Leukaemia (AML):
• Auer rods, MPO-positive
• Adults; rapid progression
• Risk factors: benzene, chemotherapy, MDS
• Special subtype: APL (M3) — t(15;17), treat with ATRA
Acute Lymphoblastic Leukaemia (ALL):
• Children; often presents with mediastinal mass, CNS involvement
• Immunophenotype:
o TdT-positive (marker of lymphoid precursors)
o CD10+ (pre-B), CD3+ (T-cell ALL)
• CNS prophylaxis essential (e.g. intrathecal methotrexate)
Chronic Myeloid Leukaemia (CML)
• t(9;22) → Philadelphia chromosome, BCR-ABL fusion gene
• Features: fatigue, weight loss, massive splenomegaly, ↑ WBC, basophilia
• Triphasic: chronic → accelerated → blast crisis
• Treatment: imatinib (tyrosine kinase inhibitor)
Chronic Lymphocytic Leukaemia (CLL)
• Elderly, often asymptomatic
• Features:
o Lymphocytosis
o Smudge cells on blood film
o Recurrent infections (hypogammaglobulinaemia)
o Autoimmune haemolytic anaemia
• Can transform into diffuse large B-cell lymphoma (Richter’s transformation)
Myelodysplastic Syndromes (MDS)
• Clonal stem cell disorder → ineffective haematopoiesis
• Features:
o Cytopenias
o Dysplastic changes in marrow
• Risk: progression to AML
• Diagnosis: hypercellular marrow with peripheral cytopenias
Lymphomas
Hodgkin Lymphoma:
• Reed–Sternberg cells
• Contiguous spread
• B symptoms: fever, night sweats, weight loss
• Common subtype: nodular sclerosis
• Staging: Ann Arbor (I–IV + A/B symptoms)
Non-Hodgkin Lymphoma (NHL):
• B or T cell origin
• Non-contiguous spread
• Key subtypes:
o Burkitt: t(8;14), c-MYC
o Diffuse large B-cell lymphoma (DLBCL): aggressive
o Follicular: t(14;18), indolent
o Marginal zone: often MALT-associated
Multiple Myeloma
• Malignant plasma cells → monoclonal protein
• CRAB criteria:
o C: hyperCalcaemia
o R: Renal impairment
o A: Anaemia
o B: Bone pain/lytic lesions
• Investigations:
o Serum electrophoresis: M-protein (IgG or IgA)
o Urine: Bence Jones protein (free light chains)
o Bone marrow: >10% clonal plasma cells
o Rouleaux formation, ↑ β2-microglobulin
• Treatment: bortezomib, lenalidomide, steroids, autologous stem cell transplant
Myeloproliferative Neoplasms (MPNs)
Polycythaemia Vera (PV):
• ↑ Hb/Hct, JAK2 mutation, ↓ EPO
• Risk of thrombosis, bleeding
• Rx: venesection, aspirin
Essential Thrombocythaemia (ET):
• ↑ Platelets, haemorrhage/thrombosis risk
• JAK2/CALR/MPL mutations
• Rx: hydroxycarbamide if high risk
Myelofibrosis (MF):
• Marrow fibrosis → tear-drop RBCs, extramedullary haematopoiesis, splenomegaly
• May transform to AML
• Bone marrow: dry tap
