Primary Myelofibrosis
Supplemental Studies
- CBC
- Blast count >9%
- WBC >40%
- Molecular
- None are specific, morphologic and clinical correlation required
- Rapidly evolving area, panel likely to change in near future
- JAK2V617F mutations in 50%
- MPL W515K/L mutations in 5%
- ASXL1 mutations in 43%
- 21% are JAK2V617F negative, ASXL1 positive
- Also occurs in post polycythemia vera and essential thrombocythemia marrow fibrosis
- Clonal cytogenetic abnormalities in 30%
- None are specific, morphologic and clinical correlation required
- Type of abnormality has prognostic implications
- e.g. poor prognosis with monosomal karyotype
- del(13q) or der(6)t(1;6) suggestive of PMF
- del(20q), partial +1q, +9, +8 not specific
- del (7q) and (5q) reported
- May be due to prior cytotoxic therapy
- Absence of Ph’ and BCR-ABL1
