Clinical - cytogenetic correlations in malignant hematologic disorders

Abstract: In the present thesis, clinicogenetic correlations are investigated in a large population-based series of acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), acute lymphoblastic leukemia, and chronic myeloid leukemia, for which the karyotypes were analyzed at the same center. The karyotypic pattern, i.e. normal karyotype or 1, 2 or ³3 anomalies, does not differ between males and females, and the frequency of cytogenetically abnormal, even complex, karyotypes does not increase with age. In AML and MDS, total or partial losses of chromosomes 5 and/or 7 are not more common in males, and do not increase with age. In the survival analyses, the cytogenetically intermediate and poor prognosis AML are shown to do worse with increasing age. The favorable group continues to do relatively well. Only those with favorable or intermediate prognosis karyotypes seem to benefit from more aggressive treatment. In MDS, the prognostic cytogenetic groups suggested by the International Prognostic Scoring System are confirmed, for the first time in a consecutive, population-based series, to be strongly associated with outcome. In the intermediate group, it is also found after adjusting for age and smoking habits, that women live longer. The frequencies of treatment-related cases (t-AML, t-MDS) are 13% of AML and 16% of MDS, and a quarter of t-AML/t-MDS may be attributable to chemo-/radiotherapy (CT/RT) of non-malignant diseases. Detailed statistical analyses of all available cytogenetic data in AML and MDS emphasize the strong association between prior CT/RT and karyotypic features. Several correlations are verified, while others are refuted. A previously not emphasized association between t(1;3) and t-AML is noted.