TY - JOUR
T1 - Characteristics and clinical significance of cytogenetic abnormalities in polycythemia vera
AU - Tang, Guilin
AU - Hidalgo Lopez, Juliana E.
AU - Wang, Sa A.
AU - Hu, Shimin
AU - Ma, Junsheng
AU - Pierce, Sherry
AU - Zuo, Wenli
AU - Carballo-Zarate, Adrian Alejandro
AU - Yin, C. Cameron
AU - Tang, Zhenya
AU - Li, Shaoying
AU - Medeiros, L. Jeffrey
AU - Verstovsek, Srdan
AU - Bueso-Ramos, Carlos E.
N1 - Publisher Copyright:
© 2017 Ferrata Storti Foundation.
PY - 2017/8/31
Y1 - 2017/8/31
N2 - 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 postpolycythemic 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.
AB - 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 postpolycythemic 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.
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U2 - 10.3324/haematol.2017.165795
DO - 10.3324/haematol.2017.165795
M3 - Article
C2 - 28473622
AN - SCOPUS:85029593249
SN - 0390-6078
VL - 102
SP - 1511
EP - 1518
JO - Haematologica
JF - Haematologica
IS - 9
ER -