Trisomy 8 and an unbalanced t(5;17)(q11;p11) characterize two karyotypically independent clones in a case of idiopathic myelofibrosis evolving to acute nonlymphoid leukemia

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Abstract

In a patient with idiopathic myelofibrosis (MFI) that had progressed to acute nonlymphoid leukemia (ANLL) after a long-lasting cytotoxic treatment, we observed two karyotypically independent cell populations, one showing trisomy of chromosome 8 as the only anomaly and one with an unbalanced translocation t(5;17)(q11;p11) resulting in partial monosomy of 5q and 17p. The overall karyotypic configuration suggested that chromosome changes occurred as secondary events during the multistep process of leukemogenesis. The probable sequence of cytogenetic events in this patient and a review of the literature indicated that the t(5;17) may represent a therapy-induced abnormality nonrandomly related to the terminal phase of myeloid disorders.

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    A third of cases possess an abnormal karyotype at diagnosis, a figure that increases if follow-up studies are undertaken.17,21,22 Evolution to more complex karyotypic patterns may accompany clinical progression,23,24 a finding consistent with the multi-step precess of leukemogenesis. Indeed, cytogenetic abnormalities, typically complex changes, increase to approximately 90% following acute transformation.22

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