Case Study

OVERVIEW

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 and her body mass index is within the normal range at 23.2 (height, 5'4"; weight, 135 lbs).

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.

This is not an actual patient.

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:



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

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 evidence of reticulin fibrosis, and the blood test and smear shows leukoerythroblastosis. Eleanor is JAK2V617F-positive and BCR-ABL‒negative.

Diagnosis

Her physician diagnoses Eleanor as having primary myelofibrosis. Eleanor meets all 3 major criteria and all 4 minor criteria of the 2008 World Health Organization diagnostic criteria for primary myelofibrosis.1

PROGNOSIS

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

Hypothetical case studies are for illustrative purposes only. Individual results may vary.

References

  1. Tefferi A, Thiele J, Orazi A, et al. Blood. 2007;110:1092-1097.
  2. Cervantes F, Dupriez B, Pereira A, et al. Blood. 2009;113:2895-2901.