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Is FISH a relevant prognostic tool in myelodysplastic syndromes with a normal chromosome pattern on conventional cytogenetics? A study on 57 patients

Leukemia volume 17, pages 2107–2112 (2003)Cite this article

Abstract

Conventional cytogenetics (CC) at clinical diagnosis shows a normal karyotype in 40–60% of de novo myelodysplastic syndromes (MDSs). Fluorescence in situ hybridization (FISH) might detect occult aberrations in these patients. Therefore, we have used FISH to check 57 MDS patients who were karyo-typically normal on CC. At clinical diagnosis, FISH revealed a clonal abnormality in 18–28% interphase cells from nine patients, five of whom also presented the same defect on metaphase FISH. In five out of nine patients, the occult defect effected a change in the international prognostic scoring system (IPSS). An abnormal FISH pattern was significantly correlated with marrow blast cell percentage (P<10−3) and IPSS (P<10−3). Patients with an occult abnormality showed an overall survival and event-free survival significantly inferior in comparison to those of patients with normal FISH (P<10−3, P<10−3). Death and AML progression were 15- and eight-fold more frequent in FISH abnormal patients. In conclusion, occult defects (1) are revealed in about 15% of CC normal MDS patients, (2) are overlooked by CC either because of the poor quality of metaphases or their submicroscopic nature, (3) are clinically relevant as they may cause a change in the IPSS category and may identify a fraction of CC normal patients with an unfavorable clinical outcome.

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Authors and Affiliations

  1. Division of Hematology, Policlinico San Matteo IRCCS, University of Pavia, Italy

    P Bernasconi, P M Cavigliano, M Boni, S Calatroni, I Giardini, B Rocca, N Crosetto, M Caresana, M Lazzarino & C Bernasconi

  2. Scientific Direction, Clinical Epidemiology and Biometry Unit, Policlinico San Matteo IRCCS, Pavia, Italy

    C Klersy

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  1. P Bernasconi
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Bernasconi, P., Cavigliano, P., Boni, M. et al. Is FISH a relevant prognostic tool in myelodysplastic syndromes with a normal chromosome pattern on conventional cytogenetics? A study on 57 patients. Leukemia 17, 2107–2112 (2003). https://doi.org/10.1038/sj.leu.2403108

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