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Molecular cytogenetics of polycythaemia vera: lack of occult rearrangements detectable by 20q LSP screening, CGH, and M-FISH

Leukemia volume 17, pages 1419–1421 (2003)Cite this article

TO THE EDITOR

Polycythaemia vera (PV) is a clonal haematological neoplasm characterised by excessive proliferation of the erythroid lineage. A number of recurring chromosomal abnormalities are seen in PV, including in order of frequency del(20q), +8, +9, del(7), del(5), and del(13q) as well as trisomy 1q. The del(20)(q?) is the most common and can be seen in approximately 10–15% of PV cases at diagnosis. The common deleted region (CDR) on 20q in myeloproliferative disorders (MPD) is well characterised and has been refined to a 2.7 Mb region spanning from D20S108 to D20S481.1 Over 75% of the PV patients have no detectable chromosome abnormalities. A normal karyotype by G-banding analysis does not exclude occult rearrangements. This has been exemplified in cases of mental retardation2 and acute leukaemia3 where FISH and/or colour karyotyping identified submicroscopic rearrangements in cells with normal conventional karyotype. We have previously used microsatellite PCR to screen DNA from PV patients with a normal karyotype, and did not reveal any submicroscopic deletions.4 These data indicated that the presence of genetically abnormal cell clone(s) within the bone marrow (BM) population, which were missed by the chromosome analysis, is highly improbable. Therefore, detection of a small deletion would greatly facilitate the identification of a potential target gene within the CDR. A range of FISH methods were used to study chromosome preparations of BM samples from 14 PV patients with apparently normal karyotype by G banding. All samples were obtained at the time of the diagnosis, which met the criteria of PV5 and prior to any treatment.

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Acknowledgements

This work was funded by Kay Kendall Leukemia Fund and Leukemia Research Fund, UK.

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Authors and Affiliations

  1. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UK

    S M Gribble

  2. Academic Haematology, Royal Free and University College School of Medicine, Rowland Hill Street, London, UK

    A G Reid & E P Nacheva

  3. Department of Haematology, University of Cambridge, Cambridge, UK

    A J Bench, B J P Huntly & A R Green

  4. Digital Scientific Ltd, Sheraton House, Cambridge, UK

    C Grace

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  1. S M Gribble
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Gribble, S., Reid, A., Bench, A. et al. Molecular cytogenetics of polycythaemia vera: lack of occult rearrangements detectable by 20q LSP screening, CGH, and M-FISH. Leukemia 17, 1419–1421 (2003). https://doi.org/10.1038/sj.leu.2402980

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