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Cytogenetic and FISH analysis in five patients with hypoplastic bone marrow

Leukemia volume 14, pages 1322–1323 (2000)Cite this article

The differential diagnosis between ‘true’ SAA and hypoplastic MDS is often difficult because of a reduced bone marrow cellularity.12 Fundamental discriminant clues can be provided by trephine biopsy and by the identification of a chromosome aberration,3 that, however, has been reported in SAA patients too.

We report on five patients, aged 20–59 years, observed at our Institution between March 1989 and August 1995. Their main clinico-hematological characteristics are listed in Table 1. Cytogenetics and FISH results are reported in Table 2. At diagnosis an initial cytogenetic analysis showed a normal chromosome pattern in all the patients. All of them evolved into AML showing clonal karyotype defects described according to ISCN4 (trisomies and monosomies were considered clonal when present in at least two and three metaphases, respectively). We decided to employ FISH retrospectively in order to establish if any minor subclone, carrying the chromosome abnormality detected by cytogenetics at the time of AML transformation, was already present at diagnosis. In order to reinforce the interphase FISH analysis of small subpopulations of cells we decided to apply the probe discovering the clonal chromosome defect along with an additional probe used as an internal control (dual-color FISH). All probes were commercially obtained (Oncor, Gaithersburg, MD, USA).

Table 1  Patients’ clinico-hematological characteristics
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Table 2  Cytogenetics and FISH data
Full size table

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Authors and Affiliations

  1. Divisione di Ematologia, Instituto di Ematologia, Università di Pavia, Policlinico San Matteo IRCCS, Pavia, Italy

    P Bernasconi, C Astori, PM Cavigliano, M Boni, L Malcovati, S Calatroni, M Caresana & C Bernasconi

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  1. P Bernasconi
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  2. C Astori
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  3. PM Cavigliano
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  4. M Boni
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  5. L Malcovati
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  6. S Calatroni
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  7. M Caresana
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  8. C Bernasconi
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Bernasconi, P., Astori, C., Cavigliano, P. et al. Cytogenetic and FISH analysis in five patients with hypoplastic bone marrow. Leukemia 14, 1322–1323 (2000). https://doi.org/10.1038/sj.leu.2401827

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