Myeloproliferative Neoplasms - MPN

  • Key Points
  • Diagnosis
  • Background
  • Pediatrics
  • Lab Tests
  • References
  • Related Topics
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Molecular Genetics of BCR-ABL1-Negative Myeloproliferative Neoplasms

Myeloproliferative neoplasms (MPNs) are associated with dysregulation of tyrosine kinases, leading to abnormal downstream signaling pathways and increased cellular proliferation. The presence of the BCR-ABL1 mutation characterizes chronic myelogenous leukemia (CML). For BCR-ABL1-negative MPNs, new molecular markers have implications for classification, diagnosis, and prognosis.

Content in tables below based on Chaligné R, et al., 2007; Guglielmelli P, et al., 2009; Klampfl T, et al., 2013; Nangalia, 2013; Schmidt AE, et al, 2012; Vainchenker W, et al., 2011; Vakil E, et al., 2011; Teferri, 2015


Indications for Testing

  • Refer to Key Points section

Criteria for Diagnosis

Laboratory Testing

  • Initial testing – CBC with differential, erythropoietin (EPO) level, uric acid, lactate dehydrogenase
    • ​Subnormal EPO level highly suggestive of PV if anemia is present
    • Normal or increased EPO makes PV unlikely and warrants evaluation for congenital or acquired erythrocytosis
  • Rule out most common causes of anemia
  • Refer to Key Points section


  • Noneosinophilic MPN (classic MPN)
    • Bone marrow examination with cytogenetic analysis is generally performed after MPN gene testing
      • Not generally necessary if JAK testing is positive and PV suspected
      • May be necessary if ET is suspected since 15% of ET are so called “wild type” (triple negative for current molecular markers)
      • Often necessary for PMF – mutation presence does not distinguish between ET and PMF
  • Eosinophilic MPN
    • Molecular genetic testing
      • Myeloid neoplasms associated with eosinophilia and abnormalities in PDGFRA, PDGFRB, or FGFR1 gene
      • Cytogenetic and fluorescence in situ hybridization (FISH) analysis for detection of FIP1L1-PDGFFA fusion, PDGFRB (5q33) translocations, or FGFR1 (8p11) translocations
      • In the absence of these molecular markers, chronic eosinophilic leukemia (CEL), not otherwise specified (NOS) (CEL-NOS), or hypereosinophilic syndrome (HES) should be considered
        • Diagnosis in both CEL-NOS and HES requires the following
          • Presence of ≥1.5x109/L eosinophil count – peripheral blood
          • Exclusion of secondary eosinophilia
          • Exclusion of other acute or chronic myeloid neoplasm
          • No evidence for phenotypically abnormal or clonal T lymphocytes
        • Diagnosis of HES requires the absence of both cytogenetic abnormality and ≥2% peripheral blasts or ≥5% bone marrow blasts
  • Mast cell MPNs – CD117 (c-Kit), CD25 testing


  • Classic MPN
    • JAK2 V617F – quantitative testing may predict degree of fibrosis, thrombotic tendencies, or survival
    • Karyotyping in PMF
      • Unfavorable – complex karyotype or ≥1 abnormality, including +8, -7/7q-, i(17q), -5/5q-, 12p-, inv(3), or 11q23
  • Eosinophilic MPN
    • inv(1) – favorable prognosis, unless associated with KIT mutation
    • PDGFRA and PDGFRB mutations – good prognosis with favorable response to tyrosine kinase inhibitors (TKIs)
    • FGFR1 mutations – poor prognosis with unclear response to TKIs

Differential Diagnosis

  • Thrombocytosis
    • Primary pulmonary fibrosis and hypertension
    • Malignancy
    • Infection
    • Leukemia
    • Connective tissue diseases
    • Drugs – corticosteroids, adrenaline
    • Hemolysis
    • Hyposplenism
    • Congenital thrombocytosis (very rare)​
  • Erythrocytosis
    • Hypoxia driven processes
      • High altitude habitat
      • Hypoxic lung disease
      • Right to left cardiopulmonary shunts
      • Carbon monoxide poisoning
      • Sleep apnea
      • Renal artery stenosis
    • Hypoxia – independent processes
      • Drugs (eg, testosterone)
      • EPO-producing tumors (eg, renal cell, hepatocellular)
      • Renal cysts
      • Renal transplant
  • Thrombocytopenia
  • Anemia
    • Vitamin/mineral deficiency – B12ironfolate
    • Chronic disease – renal, liver
    • Thyroid disease
    • Gastrointestinal bleeding – peptic ulcer disease, malignancy
    • Infection (eg, parvovirus)
  • Thromboses

Myeloproliferative neoplasms (MPN) are a group of slow-growing blood cancers, including chronic myelogenous leukemia (CML). MPNs present with clonal proliferation of abnormal hematopoietic cells that involve bone marrow and peripheral blood.

2008 WHO Classification of Myeloid Neoplasms and Acute Leukemia

Myeloproliferative neoplasms (MPN)

  • CML, BCR-ABL1-positive1
  • Chronic neutrophilic leukemia
  • Polycythemia vera1
  • Primary myelofibrosis1
  • Essential thrombocythemia1
  • Chronic eosinophilic leukemia (CEL), not otherwise specified (NOS)
  • Mastocytosis
    • Cutaneous mastocytosis
    • Systemic mastocytosis
    • Mast cell leukemia
    • Mast cell sarcoma
    • Extracutaneous mastocytoma
  • MPN, unclassifiable
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 gene

Myelodysplastic/myeloproliferative neoplasms

  • Chronic myelomonocytic leukemia
  • Atypical CML, BCR-ABL1-negative
  • Juvenile myelomonocytic leukemia
  • Myelodysplastic/myeloproliferative neoplasm, unclassifiable
  • Refractory anemia with ring sideroblasts associated with marked thrombocytosis2
Myelodysplastic syndromes
Acute myeloid leukemia (AML) and related precursor neoplasms
Acute leukemias of ambiguous lineage
1Considered classic MPN
2Provisional listing; subject to change

Selected MPNs

Myeloproliferative neoplasms are extremely rare in children.

Polycythemia vera (PV)


  • Incidence – rare
  • Age
    • <0.1% with PV are <20 years
    • Two peaks – 5-6 years, 10-14 years

Clinical Presentation

  • Thromboses
    • Arterial – stroke
    • Venous – Budd-Chiari syndrome
  • Bleeding disorders
  • Splenomegaly common
  • Rubor
  • Pruritus – especially after hot bath
  • Erythromelalgia


Indications for Testing

  • Refer to Key Points section

Criteria for Diagnosis

  • See Diagnosis tab for PV criteria

Laboratory Testing

  • Initial diagnosis – CBC with differential, uric acid, lactate dehydrogenase
  • Refer to Key Points section
Tests generally appear in the order most useful for common clinical situations. Click on number for test-specific information in the ARUP Laboratory Test Directory.

Erythropoietin 0050227
Method: Quantitative Chemiluminescent Immunoassay

JAK2 Gene, V617F Mutation, Qualitative 0051245
Method: Polymerase Chain Reaction


Only one point mutation is detected; exon 12 mutations are not detected

Limit of detection is 0.5% mutant allele


Bone marrow biopsy

Can confirm result with JAK2 V617F mutation, quantitation testing

JAK2 Gene, V617F Mutation, Quantitative 0040168
Method: Polymerase Chain Reaction


Only the one point mutation is detected

Limit of detection is 0.2% mutant allele


Bone marrow biopsy

JAK2 Gene, V617F Mutation, Qualitative with Reflex to JAK2 Exon 12 Mutation Analysis by PCR 2012085
Method: Polymerase Chain Reaction


JAK2 V617F qualitative

  • Only one point mutation is detected
  • LOD is 0.5% mutant allele

JAK2 exon 12 mutation

  • Only exon 12 mutations are detected
  • LOD – 1/1,000 cells

JAK2 Gene, V617F Mutation, Qualitative with Reflex to CALR (Calreticulin) Exon 9 Mutation Analysis by PCR with Reflex to MPL codon 515 Mutation Detection by Pyrosequencing, Quantitative 2012084
Method: Polymerase Chain Reaction/Capillary Electrophoresis/Pyrosequencing


JAK2 V617F qualitative

  • Only one point mutation is detected
  • LOD is 0.5% mutant allele

CALR exon 9

  • Detects only exon 9 indel mutations and does not detect mutations in other regions of the CALR gene
  • Results must be interpreted in the context of morphological and other relevant data
  • Test should not be used alone to diagnose malignancy

MPL codon 515

  • Does not detect mutations in other locations within the MPL gene
  • LOD – 5% mutant allele

Myeloid Malignancies Somatic Mutation and Copy Number Analysis Panel 2012182
Method: Massively Parallel Sequencing/Genomic Microarray (Oligo-SNP Array)


Mutations may be present below the limit of detection

Not intended to detect minimal residual disease

Myeloid Malignancies Mutation Panel by Next Generation Sequencing 2011117
Method: Massively Parallel Sequencing


Mutations may not be present below the limit of detection

Not intended to detect MRD

JAK2 Exon 12 Mutation Analysis by PCR 2002357
Method: Polymerase Chain Reaction


Only exon 12 mutations are detected

Limit of detection is 1/1,000 cells

CALR (Calreticulin) Exon 9 Mutation Analysis by PCR 2010673
Method: Polymerase Chain Reaction/Capillary Electrophoresis


Detects only exon 9 insertion/deletion mutations; does not detect mutations in other regions of the CALR gene

Results must be interpreted in the context of morphological and other relevant data

Test should not be used alone to diagnose malignancy

MPL codon 515 Mutation Detection by Pyrosequencing, Quantitative 2005545
Method: Polymerase Chain Reaction/Quantitative Pyrosequencing


Does not detect mutations in other locations within the MPL gene

Limit of detection for this test is 5% mutant allele

Myeloproliferative Disorders Panel by FISH 2002360
Method: Fluorescence in situ Hybridization


Detects only rearrangements targeted by the probes

Does not identify translocation partners of the PDGFRB gene on 5q33 and FGFR1 gene on 8p11

Eosinophilia Panel by FISH 2002378
Method: Fluorescence in situ Hybridization


Does not detect rearrangements associated with chronic myelogenous leukemia or identify translocation partners of PDGFRB gene on chromosome 5q33 and FGFR1 gene on chromosome 8p11

Chromosome Analysis, Bone Marrow 2002292
Method: Giemsa Band


Repeat testing as clinically indicated to monitor disease progression

Chromosome FISH, Interphase 2002298
Method: Fluorescence in situ Hybridization


Limit of detection is probe dependent and around 2-5% in interphase nuclei

Many of these abnormalities can also be detected in myelodysplastic syndromes and AML and are therefore not sufficient for diagnosis but are consistent with the suspected diagnosis (exceptions are mutations in PDGFRA and PDGFRB, which are specific for MPNs)


Repeat testing as clinically indicated to monitor disease progression

PDGFRB FISH for Gleevec Eligibility in Myelodysplastic Syndrome/Myeloproliferative Disease (MDS/MPD) 2012147
Method: Fluorescence in situ Hybridization

CD117 (c-Kit) by Immunohistochemistry 2003806
Method: Immunohistochemistry

CD25 by Immunohistochemistry 2003544
Method: Immunohistochemistry

Leukemia/Lymphoma Phenotyping by Flow Cytometry 2008003
Method: Flow Cytometry

von Hippel-Lindau (VHL) Sequencing 2002970
Method: Polymerase Chain Reaction/Sequencing


Large deletions and duplications, deep intronic mutations, and regulatory region mutations are not detected

Rare diagnostic errors may occur due to primer- or probe-site mutations

PV due to causes other than VHL gene mutations are not detected


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Vardiman J, Hyjek E. World health organization classification, evaluation, and genetics of the myeloproliferative neoplasm variants. Hematology Am Soc Hematol Educ Program. 2011; 2011: 250-6. PubMed

General References

Cario H, McMullin MF, Pahl HL. Clinical and hematological presentation of children and adolescents with polycythemia vera. Ann Hematol. 2009; 88(8): 713-9. PubMed

Chaligné R, James C, Tonetti C, Besancenot R, Le Couédic JP, Fava F, Mazurier F, Godin I, Maloum K, Larbret F, Lécluse Y, Vainchenker W, Giraudier S. Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis. Blood. 2007; 110(10): 3735-43. PubMed

Gotlib J, Maxson JE, George TI, Tyner JW. The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment. Blood. 2013; 122(10): 1707-11. PubMed

Guglielmelli P, Barosi G, Pieri L, Antonioli E, Bosi A, Vannucchi AM. JAK2V617F mutational status and allele burden have little influence on clinical phenotype and prognosis in patients with post-polycythemia vera and post-essential thrombocythemia myelofibrosis. Haematologica. 2009; 94(1): 144-6. PubMed

Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, Them NC, Berg T, Gisslinger B, Pietra D, Chen D, Vladimer GI, Bagienski K, Milanesi C, Casetti IC, Sant'Antonio E, Ferretti V, Elena C, Schischlik F, Cleary C, Six M, Schalling M, Schönegger A, Bock C, Malcovati L, Pascutto C, Superti-Furga G, Cazzola M, Kralovics R. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013; 369(25): 2379-90. PubMed

Klco JM, Vij R, Kreisel FH, Hassan A, Frater JL. Molecular pathology of myeloproliferative neoplasms. Am J Clin Pathol. 2010; 133(4): 602-15. PubMed

Nangalia J, Massie CE, Baxter EJ, Nice FL, Gundem G, Wedge DC, Avezov E, Li J, Kollmann K, Kent DG, Aziz A, Godfrey AL, Hinton J, Martincorena I, Van Loo P, Jones AV, Guglielmelli P, Tarpey P, Harding HP, Fitzpatrick JD, Goudie CT, Ortmann CA, Loughran SJ, Raine K, Jones DR, Butler AP, Teague JW, O'Meara S, McLaren S, Bianchi M, Silber Y, Dimitropoulou D, Bloxham D, Mudie L, Maddison M, Robinson B, Keohane C, Maclean C, Hill K, Orchard K, Tauro S, Du M, Greaves M, Bowen D, Huntly BJ, Harrison CN, Cross NC, Ron D, Vannucchi AM, Papaemmanuil E, Campbell PJ, Green AR. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013; 369(25): 2391-405. PubMed

Orazi A, Germing U. The myelodysplastic/myeloproliferative neoplasms: myeloproliferative diseases with dysplastic features. Leukemia. 2008; 22(7): 1308-19. PubMed

Patnaik MM, Tefferi A. Chronic Myelomonocytic Leukemia: Focus on Clinical Practice. Mayo Clin Proc. 2016; 91(2): 259-72. PubMed

Rotunno G, Mannarelli C, Guglielmelli P, Pacilli A, Pancrazzi A, Pieri L, Fanelli T, Bosi A, Vannucchi AM, Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative Investigators. Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia. Blood. 2014; 123(10): 1552-5. PubMed

Schmidt AE, Oh ST, Education Committee of the Academy of Clinical Laboratory Physicians and Scientists. Pathology consultation on myeloproliferative neoplasms. Am J Clin Pathol. 2012; 138(1): 12-9. PubMed

Tefferi A, Barbui T. Essential Thrombocythemia and Polycythemia Vera: Focus on Clinical Practice. Mayo Clin Proc. 2015; 90(9): 1283-93. PubMed

Tefferi A, Skoda R, Vardiman JW. Myeloproliferative neoplasms: contemporary diagnosis using histology and genetics. Nat Rev Clin Oncol. 2009; 6(11): 627-37. PubMed

Tefferi A, Thiele J, Vannucchi AM, Barbui T. An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms. Leukemia. 2014; 28(7): 1407-13. PubMed

Tefferi A, Vainchenker W. Myeloproliferative neoplasms: molecular pathophysiology, essential clinical understanding, and treatment strategies. J Clin Oncol. 2011; 29(5): 573-82. PubMed

Tefferi A. Polycythemia vera and essential thrombocythemia: 2012 update on diagnosis, risk stratification, and management. Am J Hematol. 2012; 87(3): 285-93. PubMed

Tefferi A. Primary myelofibrosis: 2013 update on diagnosis, risk-stratification, and management. Am J Hematol. 2013; 88(2): 141-50. PubMed

Vainchenker W, Delhommeau F, Constantinescu SN, Bernard OA. New mutations and pathogenesis of myeloproliferative neoplasms. Blood. 2011; 118(7): 1723-35. PubMed

Vakil E, Tefferi A. BCR-ABL1--negative myeloproliferative neoplasms: a review of molecular biology, diagnosis, and treatment. Clin Lymphoma Myeloma Leuk. 2011; 11 Suppl 1: S37-45. PubMed

Vardiman J, et al. Myeloproliferative Neoplasms. In Swerdlow SH, et al. WHO Classification of Tumours of Hematopoietic and Lymphoid Tissues, 4th. Lyon, France: IARC Press, 2008.

References from the ARUP Institute for Clinical and Experimental Pathology®

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Kapralova K, Lanikova L, Lorenzo F, Song J, Horvathova M, Divoky V, Prchal JT. RUNX1 and NF-E2 upregulation is not specific for MPNs, but is seen in polycythemic disorders with augmented HIF signaling. Blood. 2014; 123(3): 391-4. PubMed

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Last Update: July 2017