Cytogenetic changes in polycythemia vera (PV) vary by disease phase, providing the alterations in each phase with a distinct prognostic impact, according to a study involving 422 individuals.
Investigators evaluated participants who had PV in various phases. Among the results:
- One-third of patients had abnormal karyotypes; this included 20% of those in polycythemic phase and 90% in accelerated/blast phase.
- The most common abnormalities in polycythemic phase were isolated del(20q), +8, and +9.
- In post-polycythemic myelofibrosis, del(20q) and +1q were most common.
- In accelerated and blast phases, complex karyotype was most common.
- Patients with an abnormal karyotype had more frequent disease progression, shorter transformation-free survival, and inferior overall survival, vs their normal karyotype counterparts.
The authors suggested that cytogenetics be grouped this way:
- Low-risk: Normal karyotype, sole +8, +9, and other single abnormality.
- Intermediate-risk: Sole del20q, +1q, and other 2 abnormalities.
- High-risk: Complex karyotype.
Tang G, Hidalgo Lopez J, Wang S, et al. Characteristics and clinical significance of cytogenetic abnormalities in polycythemia vera. [Published online ahead of print May 4, 2017]. Haematologica. doi:10.3324/haematol.2017.165795.
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