Overview & Definition
Myeloproliferative Neoplasms (MPNs) are chronic bone marrow cancers in which the marrow overproduces one or more types of blood cells (red cells, white cells, or platelets).
Types & Classification
- Polycythemia Vera (PV - High RBCs)
- Essential Thrombocythemia (ET - High Platelets)
- Primary Myelofibrosis (PMF - Marrow Scarring)
- Chronic Myelogenous Leukemia (CML)
Underlying Causes & Risk Factors
- Somatic mutations in JAK2 (V617F), CALR, or MPL genes
- Constitutive activation of tyrosine kinase signaling
Common Symptoms & Warning Signs
Diagnostic Evaluation
Accurate diagnosis requires comprehensive laboratory investigation under expert hematological supervision:
- 🔍 Complete Blood Count showing leukocytosis, erythrocytosis, or thrombocytosis
- 🔍 JAK2, CALR, and MPL Mutation Testing
- 🔍 Bone Marrow Biopsy evaluating reticulin fibrosis & megakaryocyte clusters
- 🔍 Serum Erythropoietin (EPO) & Abdominal Ultrasound
Treatment Options & Clinical Management
- 💊 Therapeutic Phlebotomy (Venesection) & Low-Dose Aspirin – to keep hematocrit <45% in Polycythemia Vera and reduce thrombotic events.
- 💊 Cytoreductive Therapy – Hydroxyurea or Pegylated Interferon Alfa-2a for high-risk PV and Essential Thrombocythemia (ET).
- 💊 Targeted JAK Inhibitor Therapy – Ruxolitinib, Fedratinib, Pacritinib (indicated for severe thrombocytopenia <50k/µL), and Momelotinib (for myelofibrosis with anemia).
- 💊 Allogeneic Hematopoietic Stem Cell Transplant – potential curative option for intermediate/high-risk primary or secondary Myelofibrosis.
Frequently Asked Questions
Early symptoms include headaches, dizziness, fatigue, intense itching after warm baths (aquagenic pruritus), left upper abdominal discomfort from splenomegaly, burning pain in hands/feet (erythromelalgia), or elevated red cell/platelet counts found on routine CBC.
Diagnosis is established via complete blood count & peripheral blood film, molecular genetic testing for JAK2 (V617F/exon 12), CALR, and MPL mutations, serum erythropoietin levels, abdominal ultrasound for spleen measurement, and bone marrow trephine biopsy evaluating megakaryocytic morphology & reticulin fibrosis.