Citogenetica molecolare in oncoematologia

Cancer may be regarded as genetic disease because of presence of gene mutation and/or anomalies as consequence of exposure to mutagens, carcinogens, errors of DNA replication or damaged DNA repair. Actually WHO indicates the cytogenetic analysis as essential in the initial evaluation of haematological neoplasms. Repeated analyses are suggested for monitoring the desease evolution and the response to therapy. FISH may be usefull to detect cryptic anomalies not detected by routine techniques. Our aim was to introduce FISH analyses both at the diagnosis and in the reassessment of cases previously misdiagnosed, then we performed standard analyses in QFQ banding, at the beginning and at different stages of the disease, as well as FISH experiments with various probes: single locus, subtelomeric, whole chromosome painting, chromosome enumeration probes/alphoid sequencies and BAC/PAC probes. In the last three years 1055 samples have been analyzed by standard techniques and 433 by FISH. Consultation of database of 2367 cases by the year 2000 until now highlighted a noteworthy increase in requests of all cytogenetics analyses, mainly for lymphoid pathologies thirteen time higher in the last year. Our experience suggest that evolution from single anomaly to complex kariotypes is followed by disease progression, which may be controlled by different therapies, so a constant cytogenetic monitoring is required, using both standard and molecular cytogenetic methods.