eMedicine Specialties > Hematology > Stem Cells and Disorders

Myeloproliferative Disease: Differential Diagnoses & Workup

Author: Haleem J Rasool, MD, FACP, Hematologist Oncologist, Department of Oncology, Franciscan Skemp Healthcare
Coauthor(s): Dale Groshek, BS, PA-C, Cancer Center, Department of Radiation Oncology, Franciscan Skemp Healthcare, La Crosse
Contributor Information and Disclosures

Updated: Feb 13, 2008

Differential Diagnoses

Acute Lymphoblastic Leukemia
Lymphoma, Non-Hodgkin
Acute Myelogenous Leukemia
Mastocytosis, Systemic
Agnogenic Myeloid Metaplasia With Myelofibrosis
Splenomegaly
Chronic Lymphocytic Leukemia
Thrombocytosis, Essential
Chronic Myelogenous Leukemia
Thrombocytosis, Secondary
Hypereosinophilic Syndrome
Waldenstrom Hypergammaglobulinemia

Other Problems to Be Considered

Leukemoid reaction

Workup

Laboratory Studies

  • CBC counts and differential counts with microscopic examination of the peripheral smear
  • 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. This helps differentiate chronic myelogenous leukemia from other myeloproliferative diseases.
  • Red blood cell mass study (true vs spurious polycythemia)
  • Serum uric acid level

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.

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.

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.

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.

More on Myeloproliferative Disease

Overview: Myeloproliferative Disease
Differential Diagnoses & Workup: Myeloproliferative Disease
Treatment & Medication: Myeloproliferative Disease
Follow-up: Myeloproliferative Disease
Multimedia: Myeloproliferative Disease
References
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References

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  2. Baxter EJ, Scott LM, Campbell PJ. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. Mar 19-25 2005;365(9464):1054-61. [Medline].

  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. Donato NJ, Talpaz M. Clinical use of tyrosine kinase inhibitors: therapy for chronic myelogenous leukemia and other cancers. Clin Cancer Res. Aug 2000;6(8):2965-6. [Medline].

  6. O'Brien SG, Guilhot F, Larson RA. Imatinib compared with interferon and low-dose cytarabine for newly diagnosed chronic-phase chronic myeloid leukemia. N Engl J Med. Mar 13 2003;348(11):994-1004. [Medline].

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  9. Faderl S, Kantarjian HM, Talpaz M. New treatment approaches for chronic myelogenous leukemia. Semin Oncol. Oct 2000;27(5):578-86. [Medline].

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  12. 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].

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  15. O'Brien S, Tefferi A, Valent P. Chronic myelogenous leukemia and myeloproliferative disease. Hematology (Am Soc Hematol Educ Program). 2004;146-62.

  16. Pardanani A, Brockman SR, Paternoster SF. FIP1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia. Blood. Nov 15 2004;104(10):3038-45. [Medline]. [Full Text].

  17. Staerk J, Kallin A, Demoulin JB. JAK1 and Tyk2 Activation by the Homologous Polycythemia Vera JAK2 V617F Mutation:CROSS-TALK WITH IGF1 RECEPTOR. J Biol Chem. Dec 23 2005;280(51):41893-9.

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Further Reading

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Keywords

MPD, polycythemia vera, PV, polycythemia rubra vera, primary thrombocythemia, PT, agnogenic myeloid metaplasia, AMM, chronic myelogenous leukemia, chronic myeloid leukemia, CML, myelofibrosis, MF, acute leukemia, myelodysplastic syndrome, essential thrombocythemia, ET, Budd-Chiari syndrome, chronic idiopathic myelofibrosis, CIM, chronic neutrophilic leukemia, CNL, chronic eosinophilic leukemia, CEL, hypereosinophilic syndrome, HES

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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.

Coauthor(s)

Dale Groshek, BS, PA-C, Cancer Center, Department of Radiation Oncology, Franciscan Skemp Healthcare, La Crosse
Disclosure: Nothing to disclose.

Medical Editor

Koyamangalath Krishnan, MD, FRCP, FACP, Paul Dishner Endowed Chair of Excellence in Medicine, Professor of Medicine and Chief of Hematology-Oncology, Program Director, Hematology-Oncology Fellowship, 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.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

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.

CME Editor

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, 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 Hematology, and New York Academy of Sciences
Disclosure: Nothing to disclose.

 
 
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