Most research work concerns karyotype variability and gene mutations/polymorphisms in neoplasm pathogenesis, with particular interest in myelo- and lympho-proliferative diseases, and in conditions predisposing to these. In particular, all cytogenetic, molecular genetic, and molecular cytogenetic methods, as well as microarray-based comparative genomic hybridization (a-CGH) are applied to the following research topics: - Constitutional and acquired chromosome variability in Shwachman Diamond syndrome (SDS): SDS may be considered as the prototype of Mendelian diseases predisposing to myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML). - Mutator genes in the pathogenesis of myelodysplastic and myeloproliferative diseases: in particular in inherited bone marrow failure syndromes (IBMFS) (Fanconi Anaemia, severe congenital neutropenia, included Kostmann syndrome, Congenital Amegakaryocytic Thrombocytopenia (CAMT), “Familial Platelet Disorder with propension to AML” (FPD/AML)), in familial MDS/AML, and in non-hereditary bone marrow failure syndromes. - Molecular cytogenetics in constitutional chromosome anomalies: investigations by means of Fluorescent in situ Hybridization (FISH), and a-CGH. - Chromosome variability in myelo- and lympho-proliferative disorders: investigations, in particular, concerning trisomy 8, monosomy 7, chromosome Ph in Chronic Myelocytic Leukaemia (CML). - Minimal residual disease (MRD) in CML: Development of new diagnostic tools for the molecular monitoring of MRD, with the definition of molecular breakpoints, and the detection of Ph-positive stem cells. - Homeotic genes in breast cancer: Evaluation of expression, and link to pathogenetic mechanisms. - Molecular characterization of tooth pulp totipotent cells.