question 1

i – D. Hermansky-Pudlak

ii – H. Pseudo-Type 2 VwD

iii – B. Glanzman Thromboasthenia

(detail)

 

question 2

i – J. Bernard-Soulier

ii – R. Paris-Trousseau-Jacobsen Syndrome

iii – Y. Wiskott-Aldrich

iv– N. Grey Platelet Syndrome

v – M. Glanzman Thrombasthenia

(detail)

 

question 3

i - C. The t(2;5) NPM1-ALK fusion gene is seen in ALK+ Anaplastic large cell lymphoma and confers a better prognosis than ALK- subtypes.

ii - F. The t(11;14) present in Mantle Cell lymphoma leads to overexpression of Cyclin D1

iii - H. inv(16) is often associated with a notable eosinophilia in AML. The crystals described in the case are Charcot-Layden crystals.

iv - D. t(3;14) FOXP1-IgH is seen in 20% of orbital marginal zone lymphomas.

v - G. Other translocations listed here may be seen in ALL, but t(12;21) would be most typical for B-ALL in children aged around 10 years.

 

question 4

Correct Answer = B

(detail)

 

question 5

Correct Answer = C

(detail)

 

question 6

Correct Answer = E

(detail)

 

question 7

i - B. Hereditary Elliptocytosis

ii - G. Familial Pseudohyperkalaemia

iii - A. Hereditary Spherocytosis

iv - C. Hereditary Pyropoikilocytosis

v - H. South East Asian Ovalcytosis

(detail)

 

question 8

i - C

ii - F

iii - A

iv - E

v - B

(detail)

 

question 9

Correct answer = B (detail)

 

question 10

Correct answer = E (detail)

 

question 11

Correct answer = E (detail)

 

question 12

i - E

ii - J

iii - A

iv - B

v - D

(details here, here and here)

 

question 13

Correct answers = A & D (rationale)

question 14

i - D. Liposomal daunorubicin + cytarabine has a NICE recommendation for patients with therapy-related AML or AML with MDS-related change. The liposomal preparation is thought to better home to the marrow and have a prolonged half-life whilst there. This comes at a cost of a longer time to count recovery than standard DA.

ii - G. Azacitidine has a NICE recommendation for AML with 20-30% blasts. It can provide disease control, improving quality and length of life, but is not curative. It is given as a subcutaneous injection in an outpatient setting.

iii - E. Midostaurin is a FLT3 inhibitor and has a NICE recommendation for AML with FLT3-ITD mutation detected. It is given for 14 days starting on day 8 alongside standard DA.

iv - B. Gemtuzumab Ozogamicin is an anti-CD33 antibody combined with a cytotoxic antibiotic. It has a NICE recommendation for AML with CD33+ immunophenotype and good or intermediate cytogenetic risk (or unknown risk if cytogenetics fails).

(details here. N.B. This question was written in Jan 2019 based on current NICE recommendations.)

question 15

i – F. Classically presents with epistaxis / nasal congestion / facial oedema but other extranodal sites not infrequently involved. NK cells usually CD56+.

ii – J.

iii – B. This is the typical immunophenotype of a normal follicular T-helper cell, thought to be the cell of origin for AITL

iv – C. Strong CD30+ is a typical feature.

v – H. History most useful clue here.

(more info here and here.)

Question 16

i. B. Primary warm AIHA antibodies are usually panreactive, but in 3% of cases specificity can be assigned (Anti-c, e & E most common). As this is autoimmune, the antibody must be directed against one of the patient’s own red cell antigens. The R1R1 nomenclature tells us that his Rh phenotype is C, D, e.

ii. E. Patients with a low-level cold agglutinin are likely to be asymptomatic, and only be discovered incidentally.

iii. F. This is the Donath-Landsteiner antibody, responsible for paroxysmal cold haemoglobinuria.

iv. D. The description is of cold haemagglutinin disease (CHAD). 90% of cases are due to an Anti-I antibody.

(Details: see AIHA

question 17

Correct Answer = E.

Across two case series of drug-induced immune haemolysis (DIHA) with a total of 188 patients, ceftriaxone was thought to be the causative agent in 20 cases (Tazocin in 17, Diclofenac in 15 and fludarabine in 6). >130 drugs have been implicated in DIHA.

question 18

Correct Answer = D.

Median OS, in years, as follows: CALR - 17.7, JAK2 - 9.2, MPL - 9.1, Triple Neg - 3.2. Reference

Patients with triple negative myelofibrosis are more likely to have High Molecular Risk (HMR) mutations - IDH1/2, ASXL1, EZH2, SRSF2.

question 19

Correct Answer = D

See here