Biallelic Loss of 7q34 ( TRB ) and 9p21.3 ( CDKN2A / 2B ) in Adult Ph-Negative Acute T-Lymphoblastic Leukemia

• Published in: International journal of molecular sciences Vol. 25; no. 19; p. 10482
• Main Authors: Risinskaya, Natalya, Abdulpatakhov, Abdulpatakh, Chabaeva, Yulia, Aleshina, Olga, Gladysheva, Maria, Nikulina, Elena, Bolshakov, Ivan, Yushkova, Anna, Dubova, Olga, Vasileva, Anastasia, Obukhova, Tatiana, Julhakyan, Hunan, Kapranov, Nikolay, Galtseva, Irina, Kulikov, Sergey, Sudarikov, Andrey, Parovichnikova, Elena
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 29.09.2024; MDPI
• Subjects: Adolescent; Adult; Aged; Alleles; biallelic loss; Bone marrow; CDKN2A; Cell cycle; chromosomal microarray (CMA); Chromosome Deletion; Chromosomes, Human, Pair 7 - genetics; Chromosomes, Human, Pair 9 - genetics; Cyclin-Dependent Kinase Inhibitor p15 - genetics; Cyclin-Dependent Kinase Inhibitor p16 - genetics; Female; Genes; Humans; Leukemia; Localization; Loss of Heterozygosity; Male; Medical prognosis; Middle Aged; Mutation; Patients; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - genetics; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - pathology; T-ALL; T-cell receptor beta (TRB); TRB clonality; Young Adult; T-cell receptor beta (TRB); CDKN2A; chromosomal microarray (CMA); T-ALL; biallelic loss; TRB clonality
• ISSN: 1422-0067; 1661-6596; 1422-0067
• 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.