1: Haematological changes in systemic disease

Question 1

39yo F with Lymphoma Stage 4 disease
Involves lymph nodes, bone marrow, liver.

Recent onset jaundice + hepatomegaly
1wk Hx of SOB

Hb 87
MCV 102
Reticulocytes 190
Bilirubin 50
Blood film: anaemia + spherocytes

What is the likely explanation of this anaemia?

1. Iron deficiency
2. Anaemia of chronic disease
3. Leukoerythroblastic anaemia
4. Microangiopathic anaemia
5. Autoimmune haemolytic anaemia

Answer 1

Anaemia + Reticulocytosis suggests Haemolytic anaemia
(Bone marrow infiltration usually has low reticulocyte count)

Raised bilirubin
(Don’t know if conjugated or unconjugated)

Spherocytes = Either hereditary (not the case here) or IMMUNE MEDIATED

Causes of autoimmune haemolytic anaemia:

1. MALIGNANT (Lymphoma, CLL)
2. Autoimmune (e.g. SLE)
3. Infection (mycoplasma)
4. Idiopathic

This lady has lymphoma which has likely caused the autoimmune haemolytic anaemia

Question 2

Name 2 haem cancers causing massive hepatosplenomegaly with NO lymphadenopathy

Answer 2

Primary Myelofibrosis
Chronic Myeloid Leukemia

If there was lymphadenopathy it would be a lymphoproliferative disorder (CLL, ALL, Lymphomas)

In ACUTE leukemias you DON’T get massive hepatosplenomegaly as there isnt enough time for it to build up - these pts have massive proliferation AND disorder of differentiation so they are overwhelmed by sepsis/infection.

Question 3

22yo M with Cyanotic congenital heart disease

Hb 210g/l and Hct 60%
No splenomegaly

1. How would you classify this haematological condition?
2. What would you expect in lab results?

Answer 3

1. TRUE polycythaemia since there is tissue hypoxia (cyanotic heart disease) causing kidneys to increase EPO

It is a true SECONDARY polycythaemia (not Primary polycythaemia vera)

2. Lab results would show JAK2 wild type + Raised serum EPO

JAK2 V617F mutation seen in MPDs (PV, ET, PMF)

Question 4

53yo M with weight loss + abdo discomfort
O/E hepatomegaly + spleen 6cm below costal margin

Hb 98g/l
WCC 20
Platelets 60
BCR-ABL transcripts not detected
JAK2 V617F 20%
BM aspirate - dry tap

What is the diagnosis?

Answer 4

Hepatosplenomegaly + anaemia/thrombocytopenia

BCR-ABL -ve meaning its a Philadelphia -ve MPD

JAK2 V617F +ve AND dry tap on BM aspirate characteristic of Primary Myelofibrosis

Diagnosis = Primary Myelofibrosis

Question 5

Hb 140
WCC 120
Pt 300
Blood film shows neutrophils, basophils and myelocytes
BM 3% blasts

What is the diagnosis?

Answer 5

Chronic phase CML
Blasts are not in excess (<5%)

Accelerated phase = 10-19% blasts
Blast crisis = 80-90% blasts, Platelets + Hb would drop AND myeloblasts on blood film

Its not CLL because blood film would then show:

• Minimal neutrophils
• No basophils
• Never have myelocytes
• Excess of lymphocytes

Question 6

39yo F treated 4yrs ago for breast cancer
Recent onset jaundice + hepatomegaly

Hb 87
Reticulocytes 15
Bilirubin 50 conjugated
DAT negative

Blood film shows nucleated RBCs, tear drop poikilocytes and myelocytes

What is the likely explanation for this anaemia?

1. Iron deficiency
2. Anaemia of chronic disease
3. Leukoerythroblastic anaemia
4. Microangiopathic anaemia
5. Autoimmune haemolytic anaemia

Answer 6

Reticulocyte count is DOWN - in peripheral breakdown of red cells it would be raised - therefore it’s bone marrow infiltration causing deficiency in red cell production

Bilirubin is raised and conjugated, so points away from haemolytic anaemia (since it would be unconjugated)

DAT negative - so most causes of acquired haemolytic anaemias are excluded

Blood film shows immature cells - leukoerythroblastic features

This is likely bone marrow infiltration by breast cancer mets

• Not microangiopathic because you would see red cell fragments instead of spherocytes
• Not autoimmune because DAT -ve

NOTE: “Leukoerythroblastic features” -> Think malignancy involving BM!!!

Question 7

45yo M
3wk Hx of sore throat
Recent episode of shingles
EBV IgG serology +ve

Lymphocytes 12
Neutrophils 7
Film: reactive lymphocytes no abnormal cells

Light chain restriction: B cell Kappa 82%+, Lambda 0%

What is the diagnosis?

1. Acute lymphoblastic leukemia B cell
2. Mature B cell lymphoproliferative disorder (Chronic Lymphocytic Leukemia)
3. Infectious mononucleosis (EBV infection)
4. Acute leukemia/lymphoma T cell

Answer 7

B cell Kappa 82% -> this is MONOCLONAL suggesting malignancy

EBV IgG is NOT recent/current infection, it tells us they had it in the past.

Film shows MATURE cells (reactive lymphocytes) not immature cells (lymphoblasts)

Answer = 2

Mature B cell lymphoproliferative disorder (CLL)

In EBV you would get raised neutrophils + toxic granulation