Elevated WBC with a reciprocal decrease in hemoglobin and platelets in addition to splenomegaly are concerning for a malignant process. The elevated pulmonary artery pressure suggests that the splenomegaly has likely been present for quite some time and may be due to increased intra-abdominal pressures. A bone marrow aspiration/biopsy is needed for diagnosis. Patient will be referred back to his pulmonologist for co-management. 

Work-up in Hematology/Oncology Office

Repeat CBC with differential, peripheral blood smear, LDH, and bone marrow aspiration/biopsy are ordered. 

CBC with differential WBC 28×109/L with no circulating blasts, neutrophils 58%, lymphocytes 25%, Hgb 10.5 g/dL, MCV 90, PLTs 120×109/L

Peripheral blood smear Immature forms of white blood cells, nucleated RBC with tear drop cells, and anisocytosis 

LDH 760 U/L. 

Bone marrow aspiration/biopsy Results show hypercellular marrow (80% cellular) with 4% blasts, grade 2-3 reticulin fibrosis, diploid cytogenetics. Molecular mutation analysis reveals mutations in ASXL1 and DNMT3A.

The results above confirm a diagnosis of myelofibrosis as the patient has a hypercellular marrow with reticulin fibrosis and does not meet criteria morphologically for another myeloid neoplasm. He does not have one of the three classic mutations (JAK1, MPL,or CALR), and therefore is categorized as triple negative. The ASLX1mutation is seen in myelofibrosis. Additionally, the patient has anemia not attributed to comorbid condition, an elevated LDH, leukocytosis, and palpable splenomegaly.1

How do you determine when to treat and how to start treatment for myelofibrosis?

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