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Myeloproliferative Disease Workup

  • Author: Haleem J Rasool, MD, FACP; Chief Editor: Emmanuel C Besa, MD  more...
Updated: Feb 26, 2016

Approach Considerations

Laboratory studies for the diagnosis of myeloproliferative disease include the following:

  • CBC counts and differential counts with microscopic examination of the peripheral smear (see example below)
    Photomicrograph of a peripheral smear of a patient Photomicrograph of a peripheral smear of a patient with agnogenic myeloid metaplasia (myelofibrosis) shows findings of leukoerythroblastosis, giant platelets, and few teardrop cells.
  • Leukocyte alkaline phosphatase (LAP) score (to differentiate chronic myelogenous leukemia [CML] from other causes of leukocytosis)
  • Polymerase chain reaction (PCR) or fluorescent in-situ hybridization (FISH) run on peripher al blood can detect bcr-abl gene rearrangement [20] ; this helps differentiate CMLfrom other myeloproliferative diseases
  • Red blood cell mass study (to differentiate true vs spurious polycythemia)
  • Serum uric acid level

Imaging studies are not routinely required. However, a liver-spleen scan may occasionally be helpful to assess the size of these organs in the diagnosis of difficult cases.

Bone marrow aspiration and biopsy with cytogenetic studies are required in most, but not all, patients. Cytogenetic studies detect presence or absence of the Philadelphia chromosome and help to differentiate these disorders from myelodysplastic syndrome. PCR testing on bone marrow for JAK2 is available for suspected cases of polycythemia vera, essential thrombocythemia, or myelofibrosis.



Histologic Findings

Bone marrow histology shows hypercellularity in most myeloproliferative disorders. In the case of myelofibrosis, bone marrow fibrosis is demonstrated on the reticulin stain. Bone marrow fibrosis is also detected in the spent phase of chronic myelogenous leukemia and polycythemia vera.

Contributor Information and Disclosures

Haleem J Rasool, MD, FACP Chair, Department of Oncology, Mayo Clinic Health System, La Crosse, WI

Haleem J Rasool, MD, FACP is a member of the following medical societies: American College of Physicians, American Society of Clinical Oncology, American Society of Hematology

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

Koyamangalath Krishnan, MD, FRCP, FACP Dishner Endowed Chair of Excellence in Medicine, Professor of Medicine, James H Quillen College of Medicine at East Tennessee State University

Koyamangalath Krishnan, MD, FRCP, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, American Society of Hematology, Royal College of Physicians

Disclosure: Nothing to disclose.

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Peripheral smear of a patient with chronic myelogenous leukemia (CML) shows leukocytosis with extreme left shift and basophilia.
Peripheral smear of a patient with chronic myelogenous leukemia (CML) in blastic phase shows several blasts.
Peripheral smear of a patient with essential thrombocythemia (ET) shows markedly increased number of platelets. Some of the platelets are giant (arrow).
Peripheral smear of a patient with agnogenic myeloid metaplasia (myelofibrosis) shows leukoerythroblastosis. This photomicrograph also shows giant platelets.
Photomicrograph of a peripheral smear of a patient with agnogenic myeloid metaplasia (myelofibrosis) shows findings of leukoerythroblastosis, giant platelets, and few teardrop cells.
Table. Comparison of FAB and WHO Classifications of Chronic Myeloproliferative Diseases.
Chronic myelogenous leukemia Chronic myelogenous leukemia, BCR/ABL1 positive
Polycythemia vera Polycythemia vera
Essential thrombocythemia Essential thrombocythemia
Agnogenic myeloid metaplasia/myelofibrosis Primary myelofibrosis
... Chronic neutrophilic leukemia, not otherwise specified
... Mastocytosis
... Myeloproliferative neoplasms, unclassifiable  
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