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Molecular Biology of Myelodysplastic Syndromes

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Molecular Aspects of Hematologic Malignancies

Part of the book series: Principles and Practice ((PRINCIPLES))

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Abstract

Cytogenetic aberrations, involving chromosomes 5 (5q-), 7 (−7 and 7q-), and 8 (trisomy), are detected with the use of classical cytogenetics in at least 50 % of patients with myelodysplastic syndromes (MDS). They are currently the most powerful predicting factors of overall survival and transformation to acute leukemia in MDS. The use of complementary methods, i.e., fluorescence in situ hybridization, comparative genomic hybridization (array CGH), or single nucleotide polymorphism arrays could reveal chromosomal aberrations in 20–40 % of cases without cytogenetically detectable aberrations. Recently, genome sequencing demonstrated that more than 80 % of MDS patients present with single gene mutations, but the prognostic impact of these mutations is still provisional.

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Acknowledgments

I want to thank the support received from Celgene (Spain) in the translation of the paper.

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Authors and Affiliations

  1. Laboratori de Citogenètica Molecular, Servei de Patologia, Escola de Citologia Hematològica Soledad Woessner-IMAS, Hospital del Mar, Passeig Marítim 25-29, 08003, Barcelona, Spain

    Francesc Solé

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  1. Francesc Solé
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Correspondence to Francesc Solé .

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Editors and Affiliations

  1. International Institute of Molecular and, Trojdena 4, Warszawa, 02-109, Poland

    Michal Witt

  2. , Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszynska 32, Poznan, 60479, Poland

    Malgorzata Dawidowska

  3. , Department of Pediatric Hematology, Silesian Academy of Medicine, 3 Maja 13-15, Zabrze, 41800, Poland

    Tomasz Szczepanski

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Solé, F. (2012). Molecular Biology of Myelodysplastic Syndromes. In: Witt, M., Dawidowska, M., Szczepanski, T. (eds) Molecular Aspects of Hematologic Malignancies. Principles and Practice. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-29467-9_7

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