Cytogenetic analysis in 941 consecutive patients with haematologic disorders

Clinical and cytogenetic findings were reevaluated in 941 consecutive patients with suspected neoplastic haematological conditions studied during 1973-1984. A total of 1652 attempts at cytogenetic analysis with banding technique were performed in 240 patients with acute nonlymphocytic leukaemia (ANLL), 177 with chronic myeloid leukaemia (CML), 157 with myelodysplasia (MDS), 82 with myeloproliferative disorders (MPD), 114 with acute lymphoblastic leukaemia (ALL), 42 with non-Hodgkin lymphoma or other lymphoproliferative disorders (NHL + LPD), and 120 patients with benign disorders. Only 1 patient with a benign disorder had an acquired clonal chromosomal abnormality (diagnostic specificity 0.99), whereas abnormalities were detected in 50.0% of patients with malignant haematologic disorders (diagnostic sensitivity 0.50). Success rate was 73-74.4% in ALL, MPD, and NHL + LPD, versus 87-94% in ANLL, MDS, CML, and benign disorders. The frequencies of detected abnormalities in diagnostic subgroups were within the limits of previous reports. Striking differences in cytogenetic pattern in relation to age were found in MDS and ANLL. Results from 1973-80 were compared to 1981-84. In spite of a marked reduction in failure rate of bone marrow (BM) analyses in the second time period, the fraction of patients with only inadequate cytogenetic analyses and the frequencies of detected chromosome abnormalities remained essentially unchanged. Peripheral blood samples had a high failure rate, and seldom provided additional information to BM analyses. Delay in transportation time of samples did not in general affect the outcome of cytogenetic analysis, with possible exceptions for a higher failure rate in ALL and lower frequency of detected abnormalities in ANLL.