Clinical relevance of cytogenetics in myelodysplastic syndromes

Paolo Bernasconi, Marina Boni, Paola Maria Cavigliano, Silvia Calatroni, Ilaria Giardini, Barbara Rocca, Rita Zappatore, Irene Dambruoso, Marilena Caresana

Research output: Chapter in Book/Report/Conference proceedingConference contribution


Myelodysplastic syndromes (MDS) are a group of heterogeneous stem cell disorders with different clinical behaviors and outcomes. Conventional cytogenetics (CC) studies have demonstrated that the majority of MDS patients harbor clonal chromosome defects. The probability of discovering a chromosomal abnormality has been increased by fluorescence in situ hybridization (FISH), which has revealed that about 15% of patients with a normal chromosome pattern on CC may instead present cryptic defects. Cytogenetic abnormalities, except for the interstitial long-arm deletion of chromosome 5 (5q-), are not specific for any French-American-British (FAB)/World Health Organization (WHO) MDS subtypes, demonstrate the clonality of the disease, and identify peculiar morphological entities, thus confirming clinical diagnosis. In addition, chromosome abnormalities are independent prognostic factors predicting overall survival and the likelihood of progression in acute myeloid leukemia.

Original languageEnglish
Title of host publicationAnnals of the New York Academy of Sciences
Number of pages16
Publication statusPublished - Nov 2006

Publication series

NameAnnals of the New York Academy of Sciences
ISSN (Print)00778923
ISSN (Electronic)17496632


  • Chromosomal abnormalities
  • FAB subtype
  • Fluorescence in situ hybridization
  • Myelodysplastic syndromes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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