16 Questions
What is the minor criterion that includes the presence of a specific marker or the absence of evidence of reactive thrombocytosis?
A clonal marker or absence of evidence of reactive thrombocytosis
What is the most common symptom of polycythemia vera, which often leads to diagnosis?
An unexpectedly elevated platelet count in a routine CBC
What is the name of the medication that is specifically used to treat polycythemia vera and has been shown to be effective in controlling the disease?
Imatinib mesylate (Gleevec)
What is the name of the procedure that is used to reduce red blood cell mass and alleviate symptoms in patients with polycythemia vera?
Therapeutic phlebotomy
What is the most common complication of polycythemia vera that can lead to mortality?
Thromboembolic or hemorrhagic complications
What is the percentage of patients with polycythemia vera who progress to acute leukemia?
5%-10%
What is the median survival time for patients with polycythemia vera who remain free of serious complications?
20 years
What is the type of transplantation that is sometimes used to treat polycythemia vera, particularly in younger patients?
Bone marrow and stem cell transplantation
What is the characteristic genetic abnormality in Chronic Myeloid Leukemia?
Ph translocation and/or BCR-ABL1 fusion gene
What is the typical progression of Chronic Myeloid Leukemia?
From chronic clinical phase to accelerated phase in 3-4 years, and then to acute leukemia (terminal stage)
What is the primary characteristic of Polycythemia Vera?
Neoplastic clonal MPD that manifests with increased RBC, WBC, and Platelet counts
What are the three mutations commonly associated with Essential Thrombocytopenia?
JAK2, MPL, and CALR
What is the estimated incidence of Essential Thrombocytopenia per 100,000 per year?
Between 0.6 and 2.5 cases per 100,000 per year
What is the primary characteristic of Primary Myelofibrosis?
Clonal MPD with increased megakaryopoiesis and thrombocytosis, and overproduction of collagen
What is the frequency of the JAK2 V617F mutation in patients with Polycythemia Vera?
Approximately 95% of patients with PV
What are the major criteria for diagnosing Primary Myelofibrosis?
Megakaryocyte proliferation, rare minor increase in reticulin fibers, and JAK2 V617F, CALR, or MPL mutations
Study Notes
Chronic Myeloid Leukemia (CML)
- Caused by clonal overproduction due to Ph translocation and/or BCR-ABL1 fusion gene
- Progresses from chronic clinical phase to accelerated phase in 3-4 years, and then to acute leukemia (terminal stage)
Polycythemia Vera (PV)
- Neoplastic clonal myeloproliferative disorder (MPD) characterized by:
- Increased red blood cells (RBC), white blood cells (WBC), and platelets
- Erythrocytosis (increased RBC)
- Types:
- Absolute polycythemia (primary and secondary)
- Relative polycythemia
- 3 mutations: JAK2, MPL, and CALR
Primary Myelofibrosis (PMF)
- Clonal MPD with:
- Increased megakaryopoiesis and thrombocytosis
- Chronic idiopathic myelofibrosis (CIM) or agnogenic myeloid metaplasia (AMM)
- Least common but most aggressive form of MPN
- Typically affects older adults (>60 years), with a male:female ratio of 1:1
Incidence and Prevalence
- CML: 20% of all leukemia cases, 1.5/100,000 per year, primarily affects adults (46-53 years)
- PV: 0.6-2.5 cases per 100,000 per year, prevalence: 38-57/100,000, affects adults (50-60 years)
- PMF: estimated to be between 0.6 and 2.5 cases per 100,000 per year, prevalence: 38-57/100,000, affects adults (50-60 years)
Pathogenesis
- Philadelphia Chromosome: translocation of chromosome 22 to chromosome 9 (t(9;22))
- JAK2 V617F mutation: approximately 95% of PV patients have a mutation in the JAK2 gene
- Overproduction of collagen: comprises 3 of the 5 types of collagen (I, III, IV)
Diagnosis
- Major Criteria: megakaryocyte proliferation, rare minor increase in reticulin fibers, no criteria for BCR-ABL1 positive CML, PV, PMF, MDS or other myeloid neoplasms, and demonstration of JAK2 V617F, CALR, or MPL mutations
- Minor Criteria: presence of a clonal marker or absence of evidence of reactive thrombocytosis
Clinical Manifestations
- Frequent infections, bleeding, and massive pathologic accumulations of myeloid progenitor cells
- Often asymptomatic, but can present with anemia, bleeding, and blood hyperviscosity
Progression
- Transforms to acute leukemia, with increased clinical symptoms, poorer response to therapy, and worsening of peripheral blood picture
Prognosis
- CML: half survive 15 months without treatment, survival extended to 14 years with phlebotomy as only treatment, spent phase to AL – 5%-10%
- PV: long survival provided they remain free of serious thromboembolic or hemorrhagic complications, median survival: 20 years
- PMF: five-year survival: 50%, 1-year mortality: 27%, GVHD: 33%, survival: 5 years (some 15 years)
Treatment
- CML: nitrogen mustard or busulfan, hydroxyurea, interferon-alpha, bone marrow and stem cell transplantation, imatinib mesylate (Gleevec)
- PV: therapeutic phlebotomy, alkylating agents, JAK inhibitors, tyrosine kinase inhibitors
- PMF: bone marrow and stem cell transplantation, JAK inhibitors, tyrosine kinase inhibitors
This quiz covers the basics of chronic myeloid leukemia, polycythemia vera, essential thrombocytopenia, and primary myelofibrosis. It discusses the causes, manifestations, and types of these myeloproliferative disorders.
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