Genomic instability in a chronic lymphocytic leukemia patient with mono-allelic deletion of the DLEU and RB1 genes

• Published in: Molecular cytogenetics Vol. 12; no. 1; pp. 2 - 5
• Main Authors: Nava-Rodríguez, María Paulina, Domínguez-Cruz, Martín Daniel, Aguilar-López, Lilia Beatriz, Borjas-Gutiérrez, César, Magaña-Torres, María Teresa, González-García, Juan Ramón
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 31.01.2019; BioMed Central; BMC
• Subjects: 13q14 deletion, DLEU and RB1 gene loss; Cancer genetics; Cancer therapies; Case Report; Chromosome deletion; Chromosomes; Chronic lymphocytic leukemia; Clonal deletion; Development and progression; DNA damage; Fluorescence; Fluorescence in situ hybridization; Genes; Genetic aspects; Genomic instability; Genomics; Haploinsufficiency; Hybridization; Leukemia; Lymphatic leukemia; Lymphocytes; Lymphocytic leukemia; Medical research; Mutation; Patients; Retinoblastoma; Retinoblastoma protein; Telomeres; Vincristine; Mexico; Chronic lymphocytic leukemia; 13q14 deletion, DLEU and RB1 gene loss; Genomic instability
• ISSN: 1755-8166; 1755-8166
• DOI: 10.1186/s13039-019-0417-5

The most frequent cytogenetic abnormality detected in chronic lymphocytic leukemia (CLL) patients is the presence of a deletion within the chromosome band 13q14. Deletions can be heterogeneous in size, generally encompassing the and genes (minimal deleted region), but at times also including the gene. The latter, larger type of deletions are associated with worse prognosis.Genomic instability is a characteristic of most cancers and it has been observed in CLL patients mainly associated with telomere shortening. Cytogenetic and fluorescence in situ hybridization studies of a CLL patient showed a chromosomal translocation t(12;13)(q15;q14), a mono-allelic 13q14 deletion encompassing both the and genes, and genomic instability manifested as chromosomal breaks, telomeric associations, binucleated cells, nucleoplasmic bridges, and micronucleated cells.In conclusion, our CLL patient showed genomic instability in conjunction with a 13q14 deletion of approximately 2.6 megabase pair involving the and genes, as well as other genes with potential for producing genomic instability due to haploinsufficiency.