National Medical Research Center for Hematology, 125167 Moscow, Russia.
Institute of Biodesign and Modeling of Complex Systems, I.M. Sechenov First Moscow State Medical University, 119991 Moscow, Russia.
Int J Mol Sci. 2024 Sep 29;25(19):10482. doi: 10.3390/ijms251910482.
Tumor cells of acute lymphoblastic leukemia (ALL) may have various genetic abnormalities. Some of them lead to a complete loss of certain genes. Our aim was to reveal biallelic deletions of genes in Ph-negative T-ALL. Chromosomal microarray analysis (CMA) was performed for 47 patients with de novo Ph-negative T-ALL, who received treatment according to RALL-2016m clinical protocol at the National Medical Research Center for Hematology (Moscow, Russia) from 2017 to 2023. Out of forty-seven patients, only three had normal molecular karyotype. The other 44 patients had multiple gains, losses, and copy neutral losses of heterozygosity. Biallelic losses were found in 14 patients (30%). In ten patients (21%), a biallelic deletion of 9p21.3 involved a different number of genes, however gene loss was noted in all ten cases. For seven patients (15%), a biallelic deletion of 7q34 was found, including two genes-, located within the T-cell receptor beta () locus. A clonal rearrangement of the gene was revealed in 6 out of 7 cases with 7q34 biallelic loss. Both biallelic deletions can be considered favorable prognostic factors, with an association with 9p21 being statistically significant ( = 0.01) and a trend for 7q34 ( = 0.12) being observed.
急性淋巴细胞白血病 (ALL) 的肿瘤细胞可能具有各种遗传异常。其中一些导致某些基因完全缺失。我们的目的是揭示 Ph-阴性 T-ALL 中基因的双等位基因缺失。对 2017 年至 2023 年在俄罗斯莫斯科国家血液学医学研究中心根据 RALL-2016m 临床方案接受治疗的 47 例新发 Ph-阴性 T-ALL 患者进行了染色体微阵列分析 (CMA)。在 47 例患者中,只有 3 例具有正常的分子核型。其他 44 例患者存在多种增益、缺失和杂合性丢失的拷贝中性。在 14 例患者(30%)中发现了双等位基因缺失。在 10 例患者(21%)中,9p21.3 的双等位基因缺失涉及不同数量的基因,但在所有 10 例中均发现了基因缺失。在 7 例患者(15%)中,发现了 7q34 的双等位基因缺失,包括两个基因- ,位于 T 细胞受体β()基因座内。在 7q34 双等位基因缺失的 6 例中,均发现了 基因的克隆重排。双等位基因缺失均可被视为有利的预后因素,与 9p21 具有统计学意义(=0.01),与 7q34 呈趋势(=0.12)。