Analysis of genetic risc factors in acute lenfoblastic leukemia by quantitative PCR and the patients' characteristics

The aim of this study is analysis of genetic risk factors in adult acute lymphoblastic leukemia with quantitative polymerase chain reaction (PCR) and to describe the clinical features of these patients; 39 patients who have an acute lymphoblastic leukemia, who were diagnosed before and applied to the Dicle University Faculty of Medicine Hematology Department, have been included in the study.All of the patients have been tested with quantitative PCR method t(9;22), t(4;11), t(12;31), and t(1;19) in molecular hematology laboratory. Immunophenotype and clinical features have been described. For the patients who have been diagnosed before, the examination has been done through the access to their files. In 4 of the patients, t(9,22) has been found to be positive (10.2%). The other 3 translocations were negative in all patients. In 35 of 39 patients, immunphenotype results have been reached. 25 of these had T-cell phenotype (71%) and 2 had B-cell phenotype (22%), and 2 of the patients are considered as biphenotypic (0,5%). 3 of 4 patients which had t(9,22) positive were women and the one was man. 2 of these had T-cell and other 2 had B-cell. The leukocyte count during diagnosis was normal in 2 patients and high in 2 patients. Three of the patients had anemia and thrombocytopenia (75%). The half of the patients had hepatosplenomegalia. In addition, extra medullar involvement has been observed in 2 of these 4 patients. One of them had cranial the other had mediastinal involvement. One of these 4 patients, woman patient aged 56, died because of sepsis while she had induction treatment. 2 of the other 3 patients are in remission and under the maintenance treatment. The last one is a new patient and her treatment is going on.As the translocations worked on adult ALL are bad risk factor and Imatinib is included in the treatment of t(9,22) positive cases and because of features such as immediate AlloKIT planning, it is extremely important that these molecular markers should be studied during the diagnosis. Interestingly, contrary to the literature, especially T phenotype were more in our cases. Except that, the results we have found about genetic abnormalities are found to be parallel with the frequency of genetic abnormalities which are stated in the literature.