True Polycythemia (PV)
Polycythemia Vera (PV) is a relatively rare disease with an annual incidence of 1–2 per 100,000 and an average age of 60 years. About 40% of patients with PV present karyotypic abnormalities, with the most common being 20q-, +8, +9, chromosomal lesions in 9p, 1q amplification, and deletion of 13q-.
A. Conventional Cytogenetic Analysis
- Bone marrow karyotype
- Peripheral blood karyotype without stimulation
B. Molecular Cytogenetic Analysis (FISH)
- Detection of deletion of chromosome 20, del(20q12)
- Detection of trisomy 8
- Detection of trisomy 9
- Detection of deletion of chromosome 13, del(13q14)
C. Molecular Genetic Analysis
- Detection of the JAK2 gene V617F point mutation
