Myeloproliferative Disease Workup

  • Author: Haleem J Rasool, MD, FACP; Chief Editor: Emmanuel C Besa, MD   more...
 
Updated: Nov 17, 2011
 

Laboratory Studies

  • CBC counts and differential counts with microscopic examination of the peripheral smear (see example below)Photomicrograph of a peripheral smear of a patientPhotomicrograph 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 from other causes of leukocytosis)
  • Polymerase chain reaction (PCR) or fluorescent in-situ hybridization (FISH) run on peripheral blood can detect bcr-abl gene rearrangement (see the image below). This helps differentiate chronic myelogenous leukemia from other myeloproliferative diseases.
  • Red blood cell mass study (true vs spurious polycythemia)
  • Serum uric acid level
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Imaging Studies

  • Although not routinely required, a liver spleen scan may occasionally be helpful to assess the size of these organs in the diagnosis of difficult cases.
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Other Tests

  • Molecular test to detect bcr-abl gene when suspicious for chronic myelogenous leukemia and cytogenetically negative for Philadelphia chromosome
  • PCR testing on bone marrow for JAK2 is available for suspected cases of polycythemia vera, essential thrombocythemia, or myelofibrosis.
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Procedures

  • 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.
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Histologic Findings

Bone marrow histology shows hypercellularity in most of these 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.

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Contributor Information and Disclosures
Author

Haleem J Rasool, MD, FACP  Hematologist/Oncologist, Department of Oncology, Franciscan Skemp Healthcare

Haleem J Rasool, MD, FACP is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine and American Society of Hematology

Disclosure: Nothing to disclose.

Specialty Editor Board

Koyamangalath Krishnan, MD, FRCP, FACP  Paul Dishner Endowed Chair of Excellence in Medicine, Professor of Medicine and Chief of Hematology-Oncology, 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, and Royal College of Physicians

Disclosure: Nothing to disclose.

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

Disclosure: Medscape Salary Employment

Troy H Guthrie, Jr, MD  Director of Cancer Institute, Baptist Medical Center

Troy H Guthrie, Jr, MD is a member of the following medical societies: American Federation for Medical Research, American Medical Association, American Society of Hematology, Florida Medical Association, Medical Association of Georgia, and Southern Medical Association

Disclosure: Nothing to disclose.

Rajalaxmi McKenna, MD, FACP  Southwest Medical Consultants, SC, Department of Medicine, Good Samaritan Hospital, Advocate Health Systems

Rajalaxmi McKenna, MD, FACP is a member of the following medical societies: American Society of Clinical Oncology, American Society of Hematology, and International Society on Thrombosis and Haemostasis

Disclosure: Nothing to disclose.

Chief Editor

Emmanuel C Besa, MD  Professor, Department of Medicine, Division of Hematologic Malignancies, 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 College of Clinical Pharmacology, American Federation for Medical Research, American Society of Clinical Oncology, American Society of Hematology, and New York Academy of Sciences

Disclosure: Nothing to disclose.

References

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  3. James C, Ugo V, Le Couedic JP. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. Apr 28 2005;434(7037):1144-8. [Medline].

  4. Mesa RA, Powell H, Lasho T, Dewald G, McClure R, Tefferi A. JAK2(V617) and leukemic transformation in myelofirbrosis with myeloid metaplasia. Leuk Res. 2006/11;30 (11):1457-60.

  5. Anand S, Stedham F, Beer P, et al. Effects of the JAK2 mutation on the hematopoietic stem and progenitor compartment in human myeloproliferative neoplasms. Blood. Jul 7 2011;118(1):177-81. [Medline].

  6. Scherber R, Dueck AC, Johansson P, et al. The Myeloproliferative Neoplasm Symptom Assessment Form (MPN-SAF): international prospective validation and reliability trial in 402 patients. Blood. Jul 14 2011;118(2):401-8. [Medline].

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  14. Johansson P, Kutti J, Andreasson B. Trends in the incidence of chronic Philadelphia chromosome negative (Ph-) myeloproliferative disorders in the city of Goteborg, Sweden, during 1983-99. J Intern Med. Aug 2004;256(2):161-5.

  15. Kralovics R, Passamonti F, Buser AS. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. Apr 28 2005;352(17):1779-90. [Medline].

  16. Kutti J, Ridell B. Epidemiology of the myeloproliferative disorders: essential thrombocythaemia, polycythaemia vera and idiopathic myelofibrosis. Pathol Biol (Paris). Mar 2001;49(2):164-6. [Medline].

  17. Levine RL, Wadleigh M, Cools J. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. Apr 2005;7(4):387-97. [Medline].

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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.
FAB WHO
Chronic myelogenous leukemiaChronic myelogenous leukemia
Polycythemia veraPolycythemia vera
Essential thrombocythemiaEssential thrombocythemia
Agnogenic myeloid metaplasia/myelofibrosisChronic idiopathic myelofibrosis
...Chronic neutrophilic leukemia
...Chronic eosinophilic leukemia/hypereosinophilic syndrome
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