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Complex cytogenetic findings in the bone marrow of a chronic idiopathic myelofibrosis patient
Chronic idiopathic myelofibrosis is a myeloproliferative disorder characterized by splenomegaly, myeloid metaplasia and reactive bone marrow fibrosis. Karyotype analysis of the bone marrow is an integral part of the diagnosis, especially as a discriminative tool in ruling out reactive conditions. The frequency of clonal cytogenetic anomalies in this disease is the highest among its group, varying between 30 and 75%. Among these, trisomy 1q, 20q-, 13q- and +8 are the most common aberrations. Here we report a 66-year-old male patient whose bone marrow biopsy revealed signs of chronic myeloproliferative changes and dysmegakaryopoiesis. He was administered hydroxyurea treatment, splenic radiotherapy and multiple transfusions. The patient worsened in the following months and the second bone marrow biopsy revealed myelofibrosis. Cytogenetic analysis of this bone marrow sample revealed a complex karyotype reported to be 46,XY,del(9)(q22q34),t(8;17;21)(q22;q21;q22)[23]/46,XY[2], with a previously undefined three-way translocation and deletion in chromosome 9. The patient died shortly thereafter.

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Authors: Tuğçe Bulakbaşı Balcı, Meltem Yüksel, Zerrin Yılmaz, Feride İffet Şahin

Keywords: Kronik idiopatik myelofibrozis, sitogenetik

  • Year: 2010
  • Number: 2
  • Referance No: 33043

  • Figure 1. Karyotype of the patient: 46,XY,del(9)(q22q34),t(8;17;21)(q22;q21;q22)
  • Figure 2. a: Metaphase spread of the patient; relevant chromosomes are marked with arrows b: The same metaphase after fluorescence in situ hybridization with Whole Chromosome Probe 8 Spectrum Orange (Vysis, USA); relevant chromosomes are marked with arrows
  • Figure 3. a: Metaphase spread of the patient; relevant chromosomes are marked with arrows b: The same metaphase after fluorescence in situ hybridization with Whole Chromosome Probe 17 Spectrum Orange (Vysis, USA); relevant chromosomes are marked with arrows

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