TSitologiya i Genetika 2024, vol. 58, no. 1, 46-53
Cytology and Genetics 2024, vol. 58, no. 1, 39–45, doi: https://www.doi.org/10.3103/S0095452724010067

The role of cytogenetic rearengements of resistance formation of acute leukemias recurrence

Andreieva S.V., Korets K.V., Skorokhod I.M., Tsyapka O.M., Serbin I.M.

  1. SI «Institute of Hematology and Transfusiology of the NAMS of Ukraine», 12, M. Berlinskogo str., Кyiv, 04060, Ukraine
  2. LLC «IMMD», Kyiv,Pushcha Vodytsia, 40, Kvitky Tsysyk str., Ukraine
  3. SI «Institute of blood pathology and transfusion medicine NAMS of Ukraine», Str. Generala Chuprinka, 45, Lviv, Lviv region, Ukraine
  4. Municipal non-profit enterprise Kyiv City Clinical Hospital No 9, Str. Ryzhka, 1, Kyiv, 04112, Ukraine

SUMMARY. Cytogenetic studies were performed in bone marrow cells of 24 patients in the relapse of acute lymphoblastic leukemia (ALL), admitted to the laboratory during 2012–2022. A significant percentage of mosaic karyotypes (75.0 %) was noted, among which the combination of an abnormal clone and a normal karyotype (33.3 %) dominated. Trisomies of chromosomes led to the formation of hyperdiploid clones, among which trisomies of chromosomes 6, 21, 15 and 5 were most often found. Most often, additional marker chromosomes were recorded (22.2 %). According to the mechanisms of formation of abnormal clones in the relapses of ALL, structural abnormalities of chromosomes were recorded, among which balanced (translocations, inversions) and unbalanced (deletions, isochromosomes, additional material of unknown origin, duplications, unbalanced translocations) were determined. Losses of genetic material (deletions) (24.1 %) and translocation (33.3 %) were more often detected. The total number of cases with translocation t(9;22)(q34;q11.2) was 20.4 %. The evolution of clonal chromosome abnormalities was due to the appearance of additional quantitative and unbalanced structural abnormalities. Comparison of chromosome abnormalities at diagnosis and relapse in B-ALL did not reveal common mechanisms for the formation of chemotherapy  resistant clones. Trisomy of chromosome 5, deletion del(6)(q23), and translocation t(9;22)(q34;q11.2) were involved in the formation of clones that were insensitive tochemotherapy. The group of unfavorable prognosis included 95.8 % of karyotypes.

Keywords: acute lymphoblastic leukemia, relapses, quantitative and structural chromosome abnormalities

TSitologiya i Genetika
2024, vol. 58, no. 1, 46-53

Current Issue
Cytology and Genetics
2024, vol. 58, no. 1, 39–45,
doi: 10.3103/S0095452724010067

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