Myelofibrosis

A healthcare provider (oncologist) will perform a physical exam and ask about your medical history, including any symptoms you’re experiencing. They’ll check for signs of an enlarged spleen and anemia.

They’ll perform various tests to rule out other conditions and confirm your diagnosis.

Blood tests

• Complete blood count (CBC): This test measures your number of blood cells. A lower than normal number of red blood cells and abnormal amounts of white blood cells and platelets may suggest myelofibrosis.
• Peripheral blood smear (PBS): This test shows if your blood cells are abnormal in size, shape or other features. Abnormal-looking cells and large numbers of immature blood cells may be a sign of myelofibrosis.
• Blood chemistry tests: These tests measure levels of various substances your organs release into your blood. They can show how an organ is functioning. High levels of uric acid, bilirubin and lactic dehydrogenase may signal myelofibrosis.

Bone marrow tests

• Bone marrow biopsy: This test removes a sample of bone marrow that your provider examines underneath a microscope. They’ll analyze the cells to confirm you have myelofibrosis.
• Bone marrow aspiration: This test removes the fluid part of bone marrow so your provider can examine it for signs of myelofibrosis.

You may need additional tests to confirm your diagnosis, including:

• Gene mutation analysis: Your healthcare provider will examine blood and bone marrow cells to check for the genetic mutations associated with myelofibrosis, including JAK2, CALR and MPL. Certain treatments target cancer cells with JAK2 mutations.
• Imaging procedures: Your provider may perform an ultrasound to check for an enlarged spleen. They may perform an MRI to check for scar tissue in your bone marrow that may be a sign of myelofibrosis.