i – D. Hermansky-Pudlak
ii – H. Pseudo-Type 2 VwD
iii – B. Glanzman Thromboasthenia
i – J. Bernard-Soulier
ii – R. Paris-Trousseau-Jacobsen Syndrome
iii – Y. Wiskott-Aldrich
iv– N. Grey Platelet Syndrome
v – M. Glanzman Thrombasthenia
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.
Correct Answer = B
Correct Answer = C
Correct Answer = E
i - B. Hereditary Elliptocytosis
ii - G. Familial Pseudohyperkalaemia
iii - A. Hereditary Spherocytosis
iv - C. Hereditary Pyropoikilocytosis
v - H. South East Asian Ovalcytosis
i - C
ii - F
iii - A
iv - E
v - B
Correct answer = B (detail)
Correct answer = E (detail)
Correct answer = E (detail)
i - E
ii - J
iii - A
iv - B
v - D
Correct answers = A & D (rationale)
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.)
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.
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)
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.
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.
Correct Answer = D