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My best guess would be atypical CML or CNL. In these cases the CSF3R mutation can be found in >50% of cases (and this mutation is rarely found anywhere else). Depending on the type of mutation, the disease may be responsive to SRC inhibition (dasatinib) or JAK inhibition (rux). See the Maxon NEJM paper for details. There are trials open exploring this, but I would get HLA typing going, as transplant is likely in the cards down the line.
I am not sure how many places do CSF3R testing, but if you can't find anywhere nearby, let me know and I will try to set something up.
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.