Molecular features of primary MDS with cytogenetic changes

Cytogenetic changes in primary myelodysplastic syndromes (MDS) have been extremely useful to identify clonality and to define specific clinico-pathological entities. More recently, with the development of DNA technology, a bulk of new information has been added to classical cytogenetics. Genes corresponding to chromosomal breakpoints implicated in reciprocal translocations have been cloned. Search for the minimal lost region has been the aim of the so-called deletion mapping approach to pick up the hypothetical suppressor gene(s) critical for typical deletions of MDS. Correlation has been found between gene mutations, deletions, expression, and clinical-hematological or cytogenetic features of MDS. Integration of fluorescence in situ hybridization at DNA level and of immunophenotyping at cellular level is an elegant tool to investigate clonal affiliation in MDS with distinct genetic changes. (C) 1998 Elsevier Science Ltd. All rights reserved.