Clinical Case Discussion Forum
To share and enhance best practice management of CML, experts and interested clinicians can discuss difficult or interesting CML cases here. Physicians submit a brief history of the patient and the case for discussion using this forum.
Chronic Phase CML with Severe Myelofibrosis
39yo white male First presentation 06/13/2025 with weight loss and edema. Previously healthy, about 3 years before presentation started weight loss and low appetite which he attributed to reflux. The picture worsened about 6 months before admission and was associated with generalized edema and progressive increase in abdominal girth.
Co-morbidities: patient is on the autistic spectrum with support level 2. On physical exam, the patient was very pale. On abdominal exam there was ascites and hepato-splenomegaly (spleen 12cm below left costal margin). There was also intense peripheral edema. Initial cbc 06/16th/2025: Hb=6.4g/dl ht=18.3% WBC: 310.000/mm3 (7%blasts, 3%Pmc, 6%Mc, 4%Mmc, 13%bands, 48%neut, 3%eos, 11%baso, 3%lymph, 2%mono). Platelets: 232.100/mm3’ CML WAS DIAGNOSED ON BASIS OF POSITIVE PCR FOR BCR-ABL GENE (P210) – 06/16/2025 AND KARIOTYPE WITH t(9;22) Risk Score ELTS: 2.4636 (high risk). Bone Marrow aspirate 06/16/2025: hypercellular marrow with granulocytic hyperlasia and preserved maturation. 4%eosinophils, 14%basophils and 5% blasts, suggestive of chronic myeloproliferative disease. Flow cytometry: only 2% of immature CD34 positive cells. Bone marrow biopsy: grade III myelofibrosis Abdominal Ultrasound 06/14/2025: liver span 22.8cm, spleen 22cm, moderate ascites.
With this a diagnosis of chronic phase CML was made and he was started on IMATINIB 400mg/day on 06/23rd/2025. CBC on 11/17th/2025: Hb=6.8g/dl Ht=22.5% WBC=43,710/mm3 ( 2%Mc, 3%Mmc, 11%bands, 79%neut, 1%eos, 0%baso, 3%lymph, 1%mon) Platelets: 412,710/mm3 At this point he was considered IMATINIB failure and switched to a second generation ITK NILOTINIB 800mg/day. The presence of significant ascites was considered against the use of DASATINIB. DASATINIB and NILOTINIB ARE THE ONLY SECOND GENERATION TKI’s available in the public health service in Brasil. On 11/26th/2025 he developed clinical and laboratorial signs of pancreatitis and NILOTINIB was initially reduced to 400mg/day and then interrupted for persistent symptoms. NILOTINIB was reinstituted at varying doses since then.
Present Picture: Patient is now on NILOTINIB 200mg/day. He has mild ascites. Hepatomegaly persists (liver span 16.9cm). Massive splenomegaly remains without change 22cm span. There is slight peripheral edema. Last CBC 07/21st/2026: Hb=13.1g/dl Ht=40.6% WBC: 11,600/mm3 (1%bands, 60%neut, 2%eos, 2%baso, 25%lymph, 10%mono). Platelets=52,000/mm3 The patient feels well Additional information: - Hepatosplenic schistosomiasis was ruled out by negative serology (endemic in this área of Brasil) - JAK-2 V617F was not detected by pcr. - Alotransplantation was considered not feasible by the transplant team due to massive splenomegaly. I would very much like expert advice on the management of this patient.
Thank you for this interesting case.
To summarise:
39M
06/25 - CML-CP diagnosis. Hepatosplenomegaly with ascites.
Started imatinib 400mg QD
11/25- Switched to nilotinib 400mg BID on account of persisting hepatosplenomegaly with ascites
07/26 - WCC under control, but with persistent hepatosplenomegaly and peripheral oedema
I suspect the current organomegaly with ascites is unlikely due to CML.
I note this patient had hepatomegaly with ascites at presentation. It is very unusual for this to occur if CML is the only diagnosis. CML causes splenomegaly, but almost never massive hepatomegaly with ascites. I also note the marrow fibrosis at diagnosis - this may be an incidental finding in some CML patients. I suspect that even at baseline, this patient had significant liver disease.
You have treated the CML and the WCC has fallen. QPCR information in this case will be very useful. If the BCR::ABL1 % is low, you can be further reassured that his CML is under control.
I'd probably do another liver ultrasound looking for liver pathology and portal hypertension. Hypersplenism secondary to portal hypertension will cause thrombocytopenia and complicates the treatment of CML. I'd probably ask for help from my hepatology colleagues as well.
Hope this helps – David
Dear Dr. Yeung,
Thanks a lot for your input in this challenging case.
Our patient has been seen by hepatology. They thought his portal hypertension could may be be attributed to CML but are contemplating a liver biopsy. This procedure may be more risky in view of the thrombocytopenia and might need platelet transfusion support.
We will definitely be ordering a PCR and a new liver imaging.