Mayo Clinic Laboratories > Hematology > Myeloid neoplasms > Myeloproliferative neoplasms

Myeloproliferative neoplasms

Reflexive molecular testing to guide proper utilization

Myeloproliferative neoplasms (MPNs) are a class of chronic hematologic disorders in which there is abnormal production of blood cells by stem cells in the bone marrow. The four classic MPNs include chronic myeloid leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF).

Myeloproliferative neoplasms Test menu

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Individualized insights to monitor disease progression

For patients diagnosed with acute myeloid leukemia (AML), which is the second most common type of leukemia, monitoring for measurable, or minimal residual disease (MRD), is a critical component of establishing prognosis and predicting therapeutic response. MRD testing performed at diagnosis as well as after treatment, which can include hematopoietic stem cell transplant, provides physicians key information to:

  • Refine outcome prediction and inform choice of post-remission therapy.
  • Identify impending relapse.
  • Monitor post-hematopoietic stem cell transplant remission status.
  • Objectively assess a deeper remission status beyond the recommended 5% morphology cutoff.

Cytogenic findings typically revealed through diagnostic testing are most often used to understand disease prognosis. Among patients with genetic alterations, those with an NPM1 mutation in the absence of FLT3-ITD are associated with more favorable prognoses. Identification of NPM1 can help evaluate MRD and therapeutic response following treatment.

When to consider testing
For AML patients identified as having an NPM1 mutation, MRD testing is recommended2 at:

  • Time of diagnosis.
  • During morphologic remission with full or partial hematologic recovery.
    • Following two cycles of chemotherapy (peripheral blood {PB}).*
    • At the end of consolidation (bone marrow {BM}).
    • After the end of consolidation, in PB or BM for 24 months. BM every 3 months or PB every 4-6 weeks.
      • *Either 2 induction cycles or 1 induction and 1 consolidation cycle; includes the time point before allogenic hematopoietic cell transplantation (allo-HCT).

Chronic myeloid leukemia

CML is characterized by the fusion of BCR/ABL1. When the abnormality is observed chromosomally, it is known as the Philadelphia chromosome, or “Ph positive.” Qualitative and quantitative BCR/ABL1 testing is recommended as part of a diagnostic workup of patients with a suspicion of CML. In fact, current National Comprehensive Cancer Network (NCCN) guidelines indicate that a quantitative mRNA transcript level be obtained at diagnosis.

Using our reflex panel (Mayo ID: BCRFX), when a p210 or p190 fusion form is identified, quantitative testing is performed to provide an initial transcript level. This level can be used as a diagnostic baseline to assess response to therapy in follow-up samples. The reflex panel also identifies rare fusion forms. In these situations, initial results are reported, and no reflex testing is pursued.

Diagnosis testing

Follow-up (quantitative) testing

Additional testing


Ph-negative MPNs

PV, ET, and PMF lack BCR/ABL1 fusion and are known as Ph-negative MPNs. These MPNs have three major driver mutations that provide important diagnostic and prognostic information. Because they are mutually exclusive of each other, these molecular signatures provide a road map to guide proper test utilization during workup of the classical Ph-negative MPN cases.

Our reflexive testing approaches begin with the most common mutation first and continue to move toward the next common mutations in search of an answer. These approaches provide convenient, cost-effective, and clinically relevant information, and they remove the burden of complex molecular test ordering from busy clinicians and pathologists.

Suspicious for ET or PMF

Suspicious for PV


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