Chronic Myeloid Leukemia and Myeloproliferative Disorders

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Questions and Answers

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 Signup and view all the answers

What is the most common complication of polycythemia vera that can lead to mortality?

Thromboembolic or hemorrhagic complications Signup and view all the answers

What is the percentage of patients with polycythemia vera who progress to acute leukemia?

5%-10% Signup and view all the answers

What is the median survival time for patients with polycythemia vera who remain free of serious complications?

20 years Signup and view all the answers

What is the type of transplantation that is sometimes used to treat polycythemia vera, particularly in younger patients?

Bone marrow and stem cell transplantation Signup and view all the answers

What is the characteristic genetic abnormality in Chronic Myeloid Leukemia?

Ph translocation and/or BCR-ABL1 fusion gene Signup and view all the answers

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) Signup and view all the answers

What is the primary characteristic of Polycythemia Vera?

Neoplastic clonal MPD that manifests with increased RBC, WBC, and Platelet counts Signup and view all the answers

What are the three mutations commonly associated with Essential Thrombocytopenia?

JAK2, MPL, and CALR Signup and view all the answers

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 Signup and view all the answers

What is the primary characteristic of Primary Myelofibrosis?

Clonal MPD with increased megakaryopoiesis and thrombocytosis, and overproduction of collagen Signup and view all the answers

What is the frequency of the JAK2 V617F mutation in patients with Polycythemia Vera?

Approximately 95% of patients with PV Signup and view all the answers

What are the major criteria for diagnosing Primary Myelofibrosis?

Megakaryocyte proliferation, rare minor increase in reticulin fibers, and JAK2 V617F, CALR, or MPL mutations Signup and view all the answers

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

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Description

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.