Myelofibrosis Case Study


Eleanor C., a 72-year-old retired elementary school teacher, presents to her physician for her yearly checkup. She reports having fatigue during the last few months and has been experiencing night sweats, although she explains that this is probably due to a return of the hot flashes she experienced after menopause.

Further questioning reveals that the night sweats have become more intense and more frequent in recent months. Since her last examination a year ago, she has lost about 15 pounds but her body mass index is within the normal range at 23.2 (height, 5'4"; weight, 135 lb).

She has not been dieting, however, and says that she just cannot eat as much as she used to, which she attributes to getting older.

Initial Evaluation and Laboratory Tests

Physical examination reveals bruising on the extremities, and palpation of the spleen shows slight splenomegaly. A complete blood count and blood chemistry tests are performed, the results of which follow:

White blood cells (WBCs)
12.1 × 109/L
Red blood cells
3,200 × 109/L
Hemoglobin (Hb)
9 g/dL
250 × 109/L
Peripheral blood (PB) blasts

Results of blood chemistry testing reveal elevated serum levels of uric acid, lactic dehydrogenase, alkaline phosphatase, and bilirubin.

show a woman that has myelofibrosis
This is not an actual patient.

Eleanor’s physician decides to conduct the following tests: bone marrow biopsy to assess the bone marrow histology for fibrosis, appearance of megakaryocytes, and proliferation of myeloid cell lineages; blood test and smear to check for abnormal cell appearance; and genetic testing for BCR-ABL to rule out chronic myelogenous leukemia, and for JAK2V617F and MPL mutations to facilitate a more accurate diagnosis of a myeloproliferative neoplasm.

Results of the bone marrow biopsy show megakaryocyte proliferation and atypia with grade 2 reticulin fibrosis. The blood test and smear show leukoerythroblastosis. Eleanor is JAK2V617F-positive and BCR-ABL‒negative. She does not meet criteria for other MPNs, myelodysplastic syndromes, or other myeloid neoplasms. Eleanor's physician repeats the studies to provide confirmatory evidence for a diagnosis of myelofibrosis according to the 2016 World Health Organization diagnostic criteria.


Her physician diagnoses Eleanor as having primary myelofibrosis. Eleanor meets all 3 major and all 5 minor criteria of the 2016 World Health Organization diagnostic criteria for primary myelofibrosis.1

image show healthcare provider speaking with a patient


Using the International Prognostic Scoring System, or IPSS, Eleanor’s physician determines that with a score of 3, her risk level is high. For patients in that group, the median survival is 2.3 years.2

Understanding the Adverse Prognostic Factors for Myelofibrosis
Prognostic variable
Age >65 years
WBCs >25 × 109/L
Hb level <10 g/dL
PB blasts >1%
Presence of constitutional symptoms
Point value by risk category:
  • Low risk: 0 points
  • Intermediate-1 risk: 1 point
  • Intermediate-2 risk: 2 points
  • High risk: ≥3 points
Median survival by risk category:
  • Low risk: 11.3 years
  • Intermediate-1 risk: 7.9 years
  • Intermediate-2 risk: 4.0 years
  • High risk: 2.3 years
Hypothetical case studies are for illustrative purposes only. Individual results may vary.

1. Arber DA, Orazi A, Hasserjian R, et al. Blood. 2016;127(20):2391-2405. 2. Cervantes F, Dupriez B, Pereira A, et al. Blood. 2009;113(13):2895-2901.

By: World Health Organization (WHO)
A diagnostic worksheet from the WHO for primary MF, PV, and ET.
By: International Working Group for Myeloproliferative Neoplasms Research and Treatment (IWG-MRT)
Diagnostic criteria from the IWG-MRT.