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Gene Translocations and Deletions in Myeloid Malignancies

Inositide-specific phospholipase c β1 gene deletion in the progression of myelodysplastic syndrome to acute myeloid leukemia

Leukemia volume 18, pages 1122–1126 (2004)Cite this article

Abstract

Myelodysplastic syndrome (MDS) is an adult hematological disease that evolves into acute myeloid leukemia (AML) in about 30% of the cases. The availability of a highly specific probe moved us to perform in patients affected with MDS/AML, associated with normal karyotype, painting and fluorescence in situ hybridization (FISH) analysis aimed to check the inositide-specific phospholipase C (PI-PLC) β1 gene, a player in the control of some checkpoints of the cell cycle. Here we present a preliminary observation in which FISH analysis disclosed in a small group of MDS/AML patients with normal karyotype the monoallelic deletion of the PI-PLCβ1 gene. On the contrary, PI-PLC β4, another gene coding for a signaling molecule, located on 20p12.3 at a distance as far as less than 1Mb from PI-PLCβ1, is unaffected in MDS patients with the deletion of PI-PLC β1 gene, hinting at an interstitial deletion. The MDS patients, bearing the deletion, rapidly evolved to AML. The data suggest the possible involvement of PI-PLCβ1 in the progression of the disease and pave the way for a larger investigation aimed at identifying a possible high-risk group among MDS patients with a normal karyotype.

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Acknowledgements

Acknowledgments for research support: This work was supported by grants from: AIRC, CARISBO Foundation, Italian MIUR Cofin, Italian CNR-MIUR Oncology Project.

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  1. Contributed equally to this work

Authors and Affiliations

  1. Department of Anatomical Sciences, Cellular Signalling Laboratory, University of Bologna, Bologna, Italy

    V R Lo Vasco, L Manzoli & L Cocco

  2. Department of Biomedical Sciences, Section of Genetics, University of Chieti, Chieti, Italy

    G Calabrese, G Palka, E Morizio, P Guanciali-Franchi & D Fantasia

  3. Department of Hematology, General Hospital of Pescara, Pescara, Italy

    A Spadano

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  1. V R Lo Vasco
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  2. G Calabrese
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  3. L Manzoli
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  8. D Fantasia
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  9. L Cocco
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Correspondence to L Cocco.

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Lo Vasco, V., Calabrese, G., Manzoli, L. et al. Inositide-specific phospholipase c β1 gene deletion in the progression of myelodysplastic syndrome to acute myeloid leukemia. Leukemia 18, 1122–1126 (2004). https://doi.org/10.1038/sj.leu.2403368

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