ISSN: 1300-7777 E-ISSN: 1308-5263
Molecular-cytogenetic aberrations in B-cell adult acute lymphoblastic leukemia (B-ALL) - frequency and correlation with immunophenotype [Turk J Hematol]
Turk J Hematol. 2006; 23(3): 151-157

Molecular-cytogenetic aberrations in B-cell adult acute lymphoblastic leukemia (B-ALL) - frequency and correlation with immunophenotype

Milena Velizarova1, Dora Popova2, Evgenii Hadjiev3, Kamelia Aleksandrova3, Ivanka Dimova4, Boriana Zaharieva4, Stavri Toshkov5, Mimoza Staneva5, Djansaran Hodjajik5, Marin Penev1, Draga Toncheva4
1Chair Of Clinical Laboratory And Clinical Immunology, Department Of Laboratory Hematology, Medical University, Sofia, Bulgaria
2Laboratory Of Clinical Immunology, Department Of Allergology And Clinical Immunology, University Alexander’s Hospital, Sofia, Bulgar
3Clinic Of Hematology, University Alexander’s Hospital, Sofia, Bulgaria
4Chair Of Medical Genetics, Medical University, Sofia, Bulgaria
5National Center Of Hematology And Transfusion Medicine, Sofia, Bulgaria

B-cell acute lymphoblastic leukemia (B-ALL) accounts for 20-30% of acute leukemias in adults. Combined application of data from immunophenotyping, karyotyping and molecular analyses allows a better understanding of this heterogeneous disease. We studied 30 adult patients with newly diagnosed B-ALL by conventional cytogenetics, fluorescent in situ hybridization (FISH) and immunophenotyping analyses. We report statistically significant prevalence of structural aberrations (43%) over numerical changes (17%) (p=0.02). The most frequent structural changes were t(9;22)(q34;q11)/bcr-abl-17%, t(8q24)/C-MYC-10%, t(11q23)/MLL-6%, del 4p-6%, del12p-3%, and t(1;19)-3%. Complex karyotype was found in 17% and normal karyotype in 30%. The most frequent immunophenotype was of common B-ALL (43%), and cytogenetic and/or molecular abnormalities were found in 78% of them. We distinguished a relatively high incidence (17%) of mature B-ALL and 60% of them were associated with t(8;14)/C-MYC. We established association of cytogenetic aberrations with immunophenotype only in mature B-ALL. The other immunophenotypes are characterized by genetic heterogeneity and the presence of cytogenetic abnormalities unusual for adult B-ALL - trisomy 8 and t(1;19)(q23;p13).

Keywords: Acute adult leukemia, B-acute lymphoblastic leukemia, cytogenetics, fluorescent in situ hybridization.


Milena Velizarova, Dora Popova, Evgenii Hadjiev, Kamelia Aleksandrova, Ivanka Dimova, Boriana Zaharieva, Stavri Toshkov, Mimoza Staneva, Djansaran Hodjajik, Marin Penev, Draga Toncheva. Molecular-cytogenetic aberrations in B-cell adult acute lymphoblastic leukemia (B-ALL) - frequency and correlation with immunophenotype. Turk J Hematol. 2006; 23(3): 151-157

Corresponding Author: Milena Velizarova, Bulgaria


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