Translate page

× To share and enhance best practice management of CML, experts and interested clinicians can discuss difficult or interesting CML cases here. Clinicians submit a brief history of the patient and the case for discussion (no more than 200 words) by posting it in this forum ("+ NEW TOPIC" button below). Please include the country of origin.

Each clinical case will be forwarded to the expert clinical panel for a brief independent response. Consideration should be given to patient confidentiality. Details that are not critical to the case can be changed to preserve anonymity. Please consider including your email with the case. This will not be posted on the website, but is useful should further details be requested by the moderator.

As a full clinical history is necessary for accurate comment, cases and comments on the Forum are ONLY ACCEPTED FROM CLINICIANS. If individual patients have a specific question we encourage them to contact their healthcare provider. General questions can be emailed to

DISCLAIMER: The iCMLf does not recommend or endorse any specific tests, physicians, products, procedures, or opinions, and disclaims any representation, warranty, or guaranty as to the same. Reliance on any information provided in this Forum is solely at your own risk.

Atypical CML?

  • jerry radich
  • jerry radich's Avatar
4 years 10 months ago - 4 years 10 months ago #1428 by jerry radich
Replied by jerry radich on topic Atypical CML?
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.
Last edit: 4 years 10 months ago by Nicola.
Moderators: Melissa Davis-Bishop