Hypodiploidy in patients with acute lymphoblastic leukemia

Abstract

Background. Acute lymphoblastic leukemia (ALL) is characterized by different clinical course and different sensitivity to therapy. Taking into consideration their significant prevalence an intensive search for new prognostic criteria is conducted that may determine individual prognosis and choose the most appropriate treatment approach for patients with ALL, who often require transfusion therapy and replacement therapy with blood components.
 Objective. To detect the frequency, diagnostic and prognostic significance of hypodiploidy in patients with ALL.
 Materials and methods. Standard cytogenetic investigation of bone marrow and/or peripheral bloodcells was performed according to the standard techniques from 57 adult patients with ALL.
 Results and discussion. Chromosomal aberrations of various kinds were found in 37 (65 %) patients with ALL. Among them presence of one karyotype abnormality was established in 9 (24 %) patients, two abnormalities – in 10 (27 %) and multiple structural and/or numerical changes (≥3) – in 18 (49 %). Samples from 20 (35 %) patients showed a normal female or male karyotype without cytogenetically visible changes. The most common abnormalities in ALL were: trisomy 8, rearrangements of 7q, 17p and 11q23, translocations t(4;11)(q21;q23), t(9;22)(q34;q11), marker chromosomes, acentric structures, hypodiploidy, hyperdiploidy, complex karyotype (≥3 changes) etc. Hypodiploidy was found in 2 (4 %) patients with ALL. One patient, except for abnormal ones, had normal metaphases in him karyotype. Of two patients with hypodiploidy, one had only numerical abnormalities, whereas other one had also structural cytogenetic aberrations, except the numerical changes, namely t(1;6)(q32;q27), add(12)(q24), del(17)(p11), r(17)(p13q25). Hypodiploidy is an unfavorable marker in ALL and a near haploidy is an extremely unfavorable factor.
 Conclusions. Cytogenetic abnormalities of various kinds were found in 37 (65 %) patients with ALL. The frequency of hypodiploidy was 4 %. ALL patients with hypodiploidy were classified into cytogenetic categories of ALL with a poor risk prognosis. Thus, cytogenetic investigations should be included in the standard examination of patients with ALL for diagnosis, prognosis and selection the optimal treatment strategy.