Haematological Malignancy

Definition | Aetiology | Pathophysiology | Risk Factors | Signs and Symptoms | Investigations | Management

Definition

Haematological malignancies are cancers affecting blood, bone marrow, or lymphatic systems, including leukaemias, lymphomas, and multiple myeloma.

Aetiology

  • Leukaemia: malignancy of white blood cells (acute or chronic, myeloid or lymphoid).
  • Lymphoma: malignancy of lymphatic cells (Hodgkin and non-Hodgkin lymphoma).
  • Multiple myeloma: cancer of plasma cells producing abnormal immunoglobulins.
  • Myelodysplastic syndromes: clonal disorders of bone marrow failure.

Pathophysiology

  • Uncontrolled proliferation of abnormal blood cells.
  • Bone marrow failure leading to anaemia, thrombocytopenia, and neutropenia.
  • Organ infiltration by malignant cells causing hepatosplenomegaly, lymphadenopathy.

Risk Factors

  • Genetic predisposition (e.g., Down syndrome, Fanconi anaemia).
  • Radiation or chemotherapy exposure.
  • Viral infections (EBV, HTLV-1, HIV).
  • Chronic immune suppression (post-transplant, autoimmune diseases).

Signs and Symptoms

  • Fatigue, pallor (due to anaemia).
  • Easy bruising, petechiae (due to thrombocytopenia).
  • Recurrent infections (due to neutropenia).
  • Lymphadenopathy, hepatosplenomegaly.
  • Bone pain, especially in multiple myeloma.
  • B symptoms: fever, night sweats, weight loss (common in lymphoma).

Investigations

  • Full blood count (FBC): assesses cytopenias or leukocytosis.
  • Peripheral blood smear: identifies blasts, abnormal cells.
  • Bone marrow biopsy: definitive diagnosis for leukaemias and myelodysplastic syndromes.
  • Flow cytometry: classifies lymphoid vs myeloid malignancies.
  • Cytogenetics/FISH: identifies chromosomal abnormalities (e.g., Philadelphia chromosome in CML).
  • Serum protein electrophoresis: detects monoclonal proteins in multiple myeloma.
  • LDH, uric acid: markers of high cell turnover.

Management

1. Supportive Care:

  • Blood transfusions for symptomatic anaemia.
  • Prophylactic antimicrobials for neutropenic patients.
  • Pain control for bone pain in myeloma.

2. Disease-Specific Treatment:

  • Acute leukaemias: induction chemotherapy followed by consolidation or stem cell transplant.
  • Chronic myeloid leukaemia (CML): tyrosine kinase inhibitors (e.g., imatinib).
  • Lymphomas: chemotherapy, radiotherapy, targeted therapies (e.g., rituximab for B-cell lymphomas).
  • Multiple myeloma: proteasome inhibitors, immunomodulatory agents, autologous stem cell transplant.

3. Referral:

  • Haematology-oncology: for all suspected or confirmed cases.
  • Palliative care: for symptom control in advanced disease.
  • Genetics counselling: if familial predisposition is suspected.
HaematologymypanotesHaematological Malignancy