Cytogenetic Abnormalities in PV

Unlike CML there is no pathognomonic chromosomal abnormality associated with any of the MPDs. However, a number of nonrandom chromosomal abnormalities have been documented (see Table 9-1). Cytogenetic abnormalities are present in 20 percent of patients at diagnosis, this number increasing to over 80 percent for patients with more than 10 years follow-up.32,69 Approximately 85 percent of patients whose disease progresses to myelofibrosis and/or acute leukemia show an abnormal karyotype. In one study of 104 patients, although the number of patients with a cytogenetic abnormality at diagnosis was small, the median survival of this group was significantly less than that for patients with a normal karyotype, suggesting that an abnormal karyotype is a poor prognostic indicator.70 The incidence of chromosomal abnormalities is also greater in patients receiving myelosuppressive therapy (45 percent) than

Table 9-1. Summary of Karyotypic Abnormalities Identified

by G-Banding in PV

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