Characteristics and clinical significance of cytogenetic abnormalities in polycythemia vera
EHA Learning Center. Tang G. Sep 1, 2017; 196251
Topic: 5Eb Conventional cytogenetics, chromosome breakage and fluorescence in situ hybridization
Guilin Tang
Guilin Tang
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Co-Authors: Juliana E. Hidalgo Lopez, Sa A. Wang, Shimin Hu, Junsheng Ma, Sherry Pierce, Wenli Zuo, Adrian Alejandro Carballo-Zarate, C. Cameron Yin, Zhenya Tang, Shaoying Li, L. Jeffrey Medeiros, Srdan Verstovsek, Carlos E. Bueso-Ramos

Abstract: Up to 20% of patients with polycythemia vera have karyotypic abnormalities at the time of the initial diagnosis. However, the cytogenetic abnormalities in polycythemia vera have not been well characterized and their prognostic impact is largely unknown. In this study, we aimed to address these issues using a large cohort of polycythemia vera patients with cytogenetic information available. The study included 422 patients, 271 in polycythemic phase, 112 with post-polycythemic myelofibrosis, 11 in accelerated phase, and 28 in blast phase. Abnormal karyotypes were detected in 139 (33%) patients, ranging from 20% in those in the polycythemic phase to 90% among patients in accelerated/blast phase. Different phases harbored different abnormalities: isolated del(20q), +8 and +9 were the most common abnormalities in the polycythemic phase; del(20q) and +1q were the most common abnormalities in post-polycythemic myelofibrosis; and complex karyotypes were the most common karyotypes in accelerated and blast phases. Patients with an abnormal karyotype showed a higher frequency of disease progression, a shorter transformation-free survival and an inferior overall survival compared with patients with a normal karyotype in the same disease phase. Cytogenetics could be effectively stratified into three risk groups, low- (normal karyotype, sole +8, +9 and other single abnormality), intermediate- (sole del20q, +1q and other two abnormalities), and high-risk (complex karyotype) groups. We conclude that cytogenetic changes in polycythemia vera vary in different phases of disease, and carry different prognostic impacts.

Article Number: 1511

Doi: 10.3324/haematol.2017.165795

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