Case 107 – update 3

CXR and ECHO show no significant abnormalities. Abdo USS confirms hepatosplenomegaly but no ascites. There are no skin rashes and his blood tests are stable.

Blood film report:

Polycythaemic film. Pleomorphic blasts with evidence of cytoplasmic blebbing. Manual blast count 15%. Megakaryocyte fragments seen.

Immunophenotyping:

CD45 weak population = 12% of total nucleated cells.
CD34 variable (+/neg), CD13 weak, CD33+, CD7+, CD117+,

CD41a+
HLA DR variable (+/neg).                                                                

Flow cytometry has demonstrated a population of myeloid precursor cells with aberrant CD7 expression. There is megakaryocyte marker expression consistent with a picture of Transient Leukaemia in the context of Down syndrome (TL-DS).
Trisomy 21 and GATA1 mutation have been confirmed. Coagulation was checked and there is no evidence of DIC.

Questions:

1. What factors would determine whether treatment is required?

2. If treatment is indicated, what would you do?

3. How do you plan to follow up this baby and why?

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