FRCPath Haem Part 1 EMQs-Oncology 53 and 54

Theme: AML

Options

A. PML::RARA

B. RUNX1::RUNX1T1

C. CBFB::MYH11

D. KMT2A::MLLT3

E. DEK::NUP214

F. t(3;3)

G. AML with mutated NPM1

H. AML with CEBPA

I. AML with mutated TP53

J. AML with BCR::ABL1

Questions

Q1

A 34-year-old woman presents with menorrhagia, and rapidly worsening fatigue over 10 days. Examination reveals ecchymoses and mild fever but no significant lymphadenopathy. Laboratory tests show Hb 82 g/L, platelets 18 ×10⁹/L, WBC 4.2 ×10⁹/L, fibrinogen markedly reduced, prolonged PT/APTT, and very high D-dimer. Peripheral smear shows numerous abnormal hypergranuler cells.

Which is the most likely diagnosis?

Q2

A 29-year-old man presents with recurrent chest infections and fatigue. Examination shows mild hepatosplenomegaly. Blood film demonstrates circulating blasts with large pink cytoplasmic granules and occasional Auer rods. Bone marrow shows myeloblasts with maturation and abnormal eosinophil precursors containing basophilic granules.

Which diagnosis is most likely?

Q3

A 48-year-old woman presents with marked leukocytosis, fever, and gingival hypertrophy. Bone marrow reveals acute monoblastic leukaemia. Flow cytometry shows CD33+, CD64+, CD14+, MPO weak+, HLA-DR+.

Which diagnosis is most likely?

Q4

A 56-year-old man presents with constitutional symptoms and severe thrombocytopenia. Examination reveals hepatosplenomegaly. Bone marrow shows multilineage dysplasia and blasts of 24%. Basophilia is present.  

Which diagnosis is most likely?

Q5

A 63-year-old woman presents with fatigue and progressive cytopenias. Blood tests show Hb 79 g/L, WBC 3.1 ×10⁹/L, platelets 42 ×10⁹/L. Bone marrow reveals dysplastic megakaryocytes, 18% blasts, and marked thrombocytosis paradoxically present earlier in the disease course. Cytogenetics show chromosome 3q abnormality.

Most likely diagnosis?

Q6

A 45-year-old patient presents with fatigue and leukocytosis. Bone marrow shows 14% blasts with normal conventional cytogenetics. Molecular testing demonstrates an isolated NPM1 mutation. There is no FLT3-ITD. No other defining recurrent abnormality is detected.

Most likely diagnosis?

Q7

A 51-year-old patient has pancytopenia and marrow blasts of 12%. Molecular analysis reveals an in-frame bZIP mutation affecting. There is no history of antecedent MDS and cytogenetics are otherwise normal.

Most likely diagnosis?

Q8

A 70-year-old man with no prior haematological history presents with weight loss and severe pancytopenia. Bone marrow shows 15% blasts with complex karyotype including monosomy 5 and monosomy 7. Molecular testing demonstrates TP53 mutation with very high variant allele frequency.

Most likely diagnosis?

Q9

A 39-year-old patient presents with marked splenomegaly, high WBC count, and marrow blasts of 22%. Cytogenetics reveal t(9;22). Blasts are MPO positive and there is no convincing expression of lymphoid markers such as CD19, CD79a, or cytoplasmic CD3.

Most likely diagnosis?

Q10

A 27-year-old man presents with fatigue and recurrent infections. Peripheral blood shows blasts with large salmon-pink granules. Bone marrow reveals AML with maturation. CD19 aberrant expression is noted on flow cytometry.

Most likely diagnosis?