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Haematology
Oncology
Internal Medicine

Leukaemia

High EvidenceUpdated: 2025-12-22

On This Page

Red Flags

  • Tumour lysis syndrome
  • DIC (especially APL)
  • Neutropenic sepsis
  • Hyperleukocytosis (>100 x10^9/L)
  • CNS involvement
Overview

Leukaemia

1. Topic Overview

Summary

Leukaemia is malignancy of haematopoietic cells characterised by abnormal proliferation of white blood cells. It is classified by cell lineage (lymphoid or myeloid) and tempo (acute or chronic). Acute leukaemias (ALL, AML) present with bone marrow failure (anaemia, thrombocytopenia, neutropenia) and require urgent treatment. Chronic leukaemias (CLL, CML) often have an indolent course. Treatment depends on subtype and may include chemotherapy, targeted therapy, or stem cell transplantation.

Key Facts

  • Classification: Acute (ALL, AML) vs Chronic (CLL, CML); Lymphoid vs Myeloid
  • Most Common in Adults: CLL (chronic), AML (acute)
  • Most Common in Children: ALL
  • Presentation: Fatigue, infection, bleeding, hepatosplenomegaly
  • Diagnosis: Blood film + bone marrow biopsy
  • Philadelphia Chromosome: t(9;22) — defines CML, present in some ALL

Clinical Pearls

"Blast Crisis is the Danger": In CML, transformation to blast crisis has very poor prognosis.

"Auer Rods = AML": Auer rods in blasts are pathognomonic for AML.

"Philadelphia Positive = TKI": CML is treated with tyrosine kinase inhibitors (imatinib).

"Watch and Wait": Many CLL patients never need treatment.

Why This Matters Clinically

Leukaemia requires urgent recognition. Acute leukaemias are medical emergencies. Targeted therapies have transformed outcomes in CML and some CLL. Neutropenic sepsis is a common, life-threatening complication.


2. Epidemiology

Incidence

TypeAgeNotes
ALLPeak 2-5 yearsMost common childhood cancer
AMLPeak >5 yearsMost common acute leukaemia in adults
CLLMedian 70 yearsMost common leukaemia overall
CMLMedian 55 years15-20% of adult leukaemias

3. Pathophysiology

Mechanism

  • Clonal expansion of abnormal haematopoietic cells
  • Bone marrow replacement → cytopenias
  • Infiltration of organs (liver, spleen, CNS)
  • Genetic mutations drive proliferation

Key Genetic Abnormalities

AbnormalityLeukaemiaSignificance
t(9;22) BCR-ABL1CML, Ph+ ALLTKI therapy
t(15;17) PML-RARAAPLATRA + ATO
t(8;21)AMLFavourable prognosis
FLT3-ITDAMLAdverse; FLT3 inhibitors
del(17p)/TP53CLLPoor prognosis

4. Clinical Presentation

Symptoms

Signs

SignNotes
PallorAnaemia
Petechiae/purpuraThrombocytopenia
HepatosplenomegalyExtramedullary haematopoiesis
LymphadenopathyALL, CLL
Gum hypertrophyMonocytic AML

Red Flags

[!CAUTION] Emergencies:

  • Neutropenic sepsis
  • Tumour lysis syndrome
  • DIC (especially APL)
  • Hyperleukocytosis (leukostasis)
  • Spinal cord compression

Fatigue (anaemia)
Common presentation.
Infection (neutropenia)
Common presentation.
Bleeding/bruising (thrombocytopenia)
Common presentation.
Bone pain
Common presentation.
B symptoms (fever, weight loss, sweats)
Common presentation.
5. Clinical Examination
  • Pallor, bruising, petechiae
  • Lymphadenopathy
  • Hepatosplenomegaly
  • Gum hypertrophy
  • Signs of infection

6. Investigations
TestPurpose
FBCWCC, Hb, Platelets
Blood FilmBlasts, smudge cells (CLL)
Bone Marrow BiopsyDefinitive diagnosis
ImmunophenotypingLineage determination
CytogeneticsPrognostic, therapeutic
MolecularFLT3, NPM1, BCR-ABL1

7. Management

Acute Leukaemias

TypeTreatment
ALLMulti-agent chemo, CNS prophylaxis, ± transplant
AML7+3 induction, consolidation, ± transplant
APLATRA + Arsenic trioxide

Chronic Leukaemias

TypeTreatment
CMLTKI (imatinib first-line)
CLLWatch and wait, BTK/BCL-2 inhibitors when indicated

8. Complications
ComplicationNotes
Neutropenic SepsisMedical emergency
Tumour Lysis SyndromeMetabolic emergency
DICEspecially APL
RelapseMajor cause of mortality

9. Prognosis
TypePrognosis
ALL (children)90% cure rate
ALL (adults)40-50% cure
AML40% 5-year survival
APL85% cure with ATRA/ATO
CMLNear-normal life expectancy with TKI
CLLVariable; many never need treatment

10. Evidence & Guidelines

Key Guidelines

  1. NICE: Haematological cancers
  2. BSH Guidelines: AML, ALL, CLL, CML

11. Patient/Layperson Explanation

What is Leukaemia?

Leukaemia is cancer of the blood cells. It starts in the bone marrow where blood cells are made.

Types

  • Acute: Develops quickly, needs urgent treatment
  • Chronic: Develops slowly, may not need immediate treatment

Symptoms

  • Tiredness
  • Frequent infections
  • Easy bruising or bleeding
  • Swollen glands

Treatment

  • Chemotherapy
  • Targeted drugs
  • Sometimes bone marrow transplant

12. References
  1. National Institute for Health and Care Excellence. Haematological cancers. nice.org.uk

  2. British Society for Haematology. Guidelines for AML, ALL, CLL, CML. b-s-h.org.uk



Medical Disclaimer: MedVellum content is for educational purposes. Leukaemia requires specialist haematology care.

Last updated: 2025-12-22

At a Glance

EvidenceHigh
Last Updated2025-12-22

Red Flags

  • Tumour lysis syndrome
  • DIC (especially APL)
  • Neutropenic sepsis
  • Hyperleukocytosis (>100 x10^9/L)
  • CNS involvement

Clinical Pearls

  • **"Blast Crisis is the Danger"**: In CML, transformation to blast crisis has very poor prognosis.
  • **"Auer Rods = AML"**: Auer rods in blasts are pathognomonic for AML.
  • **"Philadelphia Positive = TKI"**: CML is treated with tyrosine kinase inhibitors (imatinib).
  • **"Watch and Wait"**: Many CLL patients never need treatment.
  • - Tumour lysis syndrome

Guidelines

  • NICE Guidelines
  • BTS Guidelines
  • RCUK Guidelines