W24 - Acute leukaemia Flashcards
A 3-year-old girl develops pain in her legs and is found to have generalised lymphadenopathy and a palpable spleen. Her blood count shows WBC 35.4 × 109/l, Hb 77 g/l and platelet count 85 × 109/l. The most likely diagnosis is
- Acute lymphoblastic leukaemia
- Chronic lymphocytic leukaemia
- Acute myeloid leukaemia
- Chronic myeloid leukaemia
1.Acute lymphoblastic leukaemia
In acute leukaemia, the dominant cell is a ______ cell
blast
AML - the incidence increases/decreases with age
- median age of diagnosis?
AML - the incidence increases with age
- median age of diagnosis = 65-70
Name 2 chromosomal translocations and 1 inversion that may result in AML
t(15;17)
t(5;8)
inv(16)
Name 2 chromosomal duplications that may result in AML - any associated diseases for either one?
Trisomy 8 (predisposes to AML)
Trisome 21 (predisposes to Down’s and AML)
Name 2 chromosomal loss or deletion that may result in AML
deletions and loss of 5/5q & 7/7q
q = long arm
RFs (4) for development of AML
- Familial predisposition
- Irradiation
- Anticancer drugs
- Smoking
also idiopathic
This is a inv(16) aka t(16;16)
- what disease is this?
- what does the blood film show?
AML
- in this AML subtype, there is some maturation to bizarre eosinophil precursors (with giant granules) and also some blast cells
- in inv(16) AML the block of differentiation is incomplete
Which is AML? why?
Top is likely AML due to fine granules
Bottom is likely lymphoid
*we can’t be 100% certain without immunophenotyping
Cytological features – which are myeloid?
auer rods = crystalline inclusion bodies in myeloid blast cells
How does leukamogenesis in AML occur?
at least 2 interacting molecular defects, synergise to give leukaemic phenotype via either:
- promoting proliferation + anti-apoptosis
- blocking differentiation
Person showing gum infiltration, skin changes (petechaei-like lesions), hepatosplenomegaly and recently feeling very lethargic with some weight loss. Diagnosis?
Acute monocytic leukaemia
*Gum infiltration is always monocyte disease
What do you do if you can’t tell if it is AML or ALL?
Immunophenotyping (Flow cytometry)
Clinical features (8) of AML
BM failure:
- Anaemia
- Neutropenia
- Thrombocytopaenia
Local infiltration:
- Splenomegaly
- Hepatomegaly
- Skin, CNS, or other sites
- Lymphadenopathy
- Gum infiltration (if monocytic)
If you suspect AML or ALL - what do you do? 4 steps
- Blood count and blood film
- If auer rods + granules => proves myeloid
- If not => immunophenotyping
- If aleukaemia leukaemia (no leukaemic cells in blood) => BM aspirate
General principals of treatments (4) for AML
- Supportive care - Red cells, platelets, FFP/cryoprecipitate if DIC, abx, electrolyte balance
- Chemotherapy (4-5 courses, 6 months)
- Targeted molecular therapy
- Transplantation - if poor prognosis
What % of children with ALL are cured?
85%
Clinical features (8) of ALL
BM failure:
- Anaemia (pallor)
- Neutropenia (infections)
- Thrombocytopaenia (bruising)
Local infiltration:
- Splenomegaly
- Hepatomegaly
- Lymphadenopathy +/- thymic enlargement
- Testes, CNS, kidneys, or other sites
- Bone (causing pain, limping)
B-ALL or T-ALL - where does each originate?
B-ALL = BM
T-ALL = thymus, hence may be enlarged
How does leukamogenesis in ALL occur?
- proto-oncogene dysregulation (via chromosomal translocation like fusion genes, wrong promoter, etc)
- unknown - hyperdiploidy
Good prognostic factor for ALL
Hyperdiploidy
poor prognostic factors (2) for ALL
- Hypodiploidy
- Ph + (previously poor, now better prognosis)
What % of ALL is B-ALL and T-ALL?
B-ALL 85%
T-ALL 15%
General principals of treatments (4) for ALL
- Supportive care => blood products, abx, general medical care
- Chemotherapy (systemic + CNS-targeted)
- Molecularly targeted treatment
- Transplantation
