Hello to everybody. I agree with other comments in this case. I believe that we need some more clinical details like platelet count, bone marrow blast and promyelocyte count as well evaluation of dysplastic features within bone marrow if any.
Classical cytogenetic banding can provide essential information but can fail if it is normal. Than all mutations suggested by Prof. Hochhaus can be done if system can support (pay) in local or some reference lab. If karyotype is normal, than also bone marrow biopsy can add some details like degree of fibrosis, architectural displacement within the bone marrow (smth similar to ALIP), blast clusters...
Some of features are similar to MDS/MPN entity especially that patient has monocytes in differential. Even he is to young for CMML but it would be of interest to see morphology of those monocytes in peripheral blood (absolute mono count is around 6000).
Hydroxyurea will calm WBC count but it may also have a detrimental effect to anemia and platelets. If bone marrow blasts are over 10% than his clinical course can be aggressive, hence HLA typing and search for HLA compatible sibling will be also worth to consider.
ORIGINAL CASE:
I would appreciated if you can give me some advice about the diagnosis and treatment.
A male 18 year old, presented with fatigue. His CBC showed Hb 5.4 g/dl Hct 17.6 % MCV 106.7 fL WBC 60,050/uL (N 52%, L 6%, Mo 9%, Eo 14%, Band 8%, Blast 6%, Myelocyte 4%, Meta myelocyte 1%)
Peripheral blood smear showed dysmorphic of neutrophil, eosinophil.
Bone marrow aspirate showed increase cellularity 2+, Megakaryocyte decrease 2+, normal erythroid, increase myeloid 2+.
BCR-ABL negative, pending for JAK2 mutation and PDGFR1 mutation
U/S upper abdomen showed splenomegaly; 17.7 cm. No hepatomegaly and lymphadenopathy.
Unfortunately, we do not have laboratory test for other myeloid mutation.
I am thinking about the diagnosis of atypical CML in this case and plan to discuss with his parent in order to go for allogeneic stem cell transplantation.
I would like to ask if you agree with the diagnosis and plan of treatment.