Case Presentation: Primary Myelofibrosis

Harry Erba, MD, PhD:So, next we’re going to discuss a 67-year-old woman who goes to her primary care physician with a number of symptoms. She has fatigue, she has abdominal fullness, she has night sweats, and she has been losing weight. She has lost 17 pounds. On her past medical history, she just has hypertension on physical exam. Her spleen tip is palpable, about 7 cm below the left costal margin. Nothing else on exam. In terms of her blood count, she’s anemic with a hemoglobin of 9.2. She has a normal platelet count of 189,000 and she has leukocytosis with a white-blood cell count of 19,000.

So, at that point, you know that the patient has leukocytosis anemia and a big spleen. There’s a very broad differential diagnosis here. And looking at the peripheral blood smear can be very helpful because this could be a patient with chronic lymphocytic leukemia, mantle cell lymphoma, or marginal zone lymphoma. So, lymphomas can present like this. Even hairy cell leukemia can present like this. And so, the peripheral blood smear might be very helpful with that leukocytosis if there are a lot of lymphocytes there and you can perform flow cytometry on the peripheral blood to try to ascertain the diagnosis. Evidently, that was likely not the case because she has a bone marrow biopsy, and the bone marrow biopsy shows class 3, or grade 3, fibrosis in the marrow, myelofibrosis. They do immunostains for CD34 and CD117 and find 1.2% blast in the marrow, and they do a molecular analysis showing that the disease in the marrow is positive for substitution of missense mutation inJAK2called the V617Fmutation. So, the final diagnosis is primary myelofibrosis.

Transcript edited for clarity.

March 2017

• A 67-year old woman presents to her primary care physician with complaints of fatigue, abdominal fullness, night sweats, and 17-lb weight loss over the past 6 months.
• PMH includes hypertension, controlled on enalapril 10 mg
• Abdominal examination reveals spleen palpable 7 cm below the costal margin
• Lab values:
  • HGB: 9.2 gm/dl
  • Platelets: 189 x 10⁹/L
  • WBC: 19 x 10⁹/L
• Bone Marrow Biopsy:
  • MF-3
  • CD34+/CD117+ immunostaining demonstrated 1.2% blasts
  • JAK-V617F mutation
• Diagnosis: Primary myelofibrosis