Oncology/Haematology

Question 1

Most common human platelet antigen in FNAIT

Answer 1

Anti HPA 1a 85%

5b second most common in caucasian population
HPA 4 most common in Asian population

Question 2

ALL

Standard risk

High risk

Answer 2

Standard:
1-9yo
WCC <50
Without 9:22 or 4:11

High risk:
>10
WCC > 50

Question 3

ALL 12:21

Answer 3

25% of children
TEL-AML1

Excellent prognosis

Question 4

What do the southern, Norther and western blot identify?

Answer 4

Southern: DNA
Northern: RNA
Western: protein

Question 5

Bernard-Soulier syndrome

Answer 5

BSS is one of a group of hereditary platelet disorders characterised by thrombocytopenia, giant platelets, and a tendency toward bleeding. The bleeding time and platelet aggregation studies would be needed to point towards this.

Question 6

Glanzmann thrombasthenia.

Answer 6

Glanzmann thrombasthenia (GT) is a genetic platelet disorderin which the platelets have qualitative or quantitative deficiencies of the fibrinogen receptor αIIbβ3.

Question 7

Neonatal alloimmune thrombocytopenic pupura.

Answer 7

NAIT is caused when the mother’s and baby’s platelets become incompatible, a condition known as platelet alloimmunisation.Platelet alloimmunisation happens when a mother’s body forms antibodies in reaction to antigens that are different from her own. The outcome is low platelets.In about one fourth of cases, the baby can experience spontaneous bleeding into the brain; in about one third of these cases, this leads to foetal death.

Question 8

Chemotherapy agents causing secondary malignancy

Answer 8

Cyclophosphamide

Etoposide (AML)

Question 9

Blood film showing teardrop cells and target cells microcytic anaemia

Answer 9

Thalassemia trait
Beta thalassemia minor

Normal red cell distribution width

Question 10

Cold AIHA

% of AIHA
Associations
Antibodies
Blood film

Answer 10

10%
EBV/mycoplasma
IgM
Red cell clumping

Question 11

Warm AIHA

Clinical signs
Blood film

Answer 11

Jaundice, splenomegaly

Spherocytes (EMA neg)

Question 12

Clinical signs of acute splenic sequestration

Answer 12

Engorgement of the spleen (rapid increase in size), hypovolemia, decreased Hb (can have retics)

Question 13

Elevation of HbA2 level

Answer 13

Confirms diagnosis of beta thalassemia trait (4-6%)

Question 14

Half Life of vitamin K dependent proteins

Answer 14

II 60HRS 
VII 4-6hrs 
IX 24hrs 
X 24-48 hrs 
Protein C 8 hours
Protein S 30 hours

Question 15

vWD

• frequency
• genetics
• cause
• Ix

Answer 15

Common 1 in 100 (1 in 1000 symptomatic)

Autosomal dominant

Absent, defective or ineffective vWF. vWF acts as an adhesive bridge between platelets and subendothelial structures

Prolonged APTT, normal PT, low Factor VIII

Question 16

Schwachman diamond syndrome associations

Answer 16

SDS usually presents in infancy or childhood with

• exocrine pancreatic insufficiency,
• short stature,
• bony abnormalities and
• cytopaenia (usually neutropaenia).

Question 17

Schwachman diamond syndrome associations

Answer 17

SDS usually presents in infancy or childhood with

• exocrine pancreatic insufficiency,
• short stature,
• bony abnormalities and
• cytopaenia (usually neutropaenia).

Question 18

Dyskeratosis congenita associations

Answer 18

DC is an inherited bone marrow failure syndrome that presents with a triad of

• skin pigmentation,
• nail dystrophy, and
• oral leukoplakia.

Patients with DC usually are diagnosed in adolescence or adulthood.

Question 19

Missense mutation for sickly cell disease

Answer 19

GAG to GTG
Valine for glutamic acid
on the surface of the HbS molecule of the beta globin chain