Case History

Case number: 00004

A young female with a history of Graves’ disease and chronic hepatitis B was referred to the Emergency Department for lethargy and dyspnoea on exertion. An FBC done in EMD showed anaemia and thrombocytopaenia. On examination, she is febrile and has conjunctival pallor. There are no other significant examination findings.

Investigations:
TW 7.88 Hb 4.4 Plt 11
Cr 89
Bil 11 AST 25 ALT 18 ALP 70 LDH 1010

Her peripheral blood film is shown below:

 




She was admitted to hospital and underwent a bone marrow biopsy that day.

Flow cytometry identified 43% abnormal cells with the following phenotype: CD45dim/SSc-hi/34+/19partial/cy79a-partial/cyMPO+/cy3-/7-/nuTDT+/117+/HLADR+/13dim/11b-/16-/10-/64dim/14-/35-/300-/33het/105-/36-/71dim/56partial/22-/NG2-/15partial/38+/123dim/203c-/61-/4-

Cytogenetics: t(8;21)

No mutations were detected in c-kit, CEBPA, NPM1 or FLT3

Her bone marrow aspirate is shown below:




Questions:

  1. What does the blood film show?
  2. What does the bone marrow aspirate show?
  3. How would you interpret the immunophenotype on flow cytometry?
  4. What is the diagnosis?

Discussion