Idiopathic Thrombocythemia (ET)
The incidence is estimated at 1–2.5 per 100,000 per year. Chromosomal abnormalities are observed in less than 10% of cases at diagnosis (Third International Workshop on Chromosomes in Leukemia, 1981; Sessarego et al., 1989).
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)
- Detection of monosomy or deletion of chromosome 7, -7/del(7q-)
- Detection of monosomy or deletion of chromosome 5, -5/del(5q-)
- Detection of translocation t(9;22)(q34;q11), BCR/ABL1
C. Molecular Genetic Analysis
- Detection of the JAK2 gene V617F point mutation
