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

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 gen...

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Bibliographic Details
Published in:Molecular cytogenetics 2019-01, Vol.12 (1), p.2-5, Article 2
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: Article
Language:English
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
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Summary: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.
ISSN:1755-8166
1755-8166
DOI:10.1186/s13039-019-0417-5