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

Autor: Nava-Rodríguez MP; 1Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud. Universidad de Guadalajara, Guadalajara, Jalisco Mexico.; 2División de Genética, Centro de investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, CIBO-IMSS, Guadalajara, Jalisco Mexico., Domínguez-Cruz MD; 3Instituto Jalisciense de Ciencias Forenses, Secretaría de Salud Jalisco, Guadalajara, Jalisco México., Aguilar-López LB; 4UMAE H. Especialidades-CMNO, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco México., Borjas-Gutiérrez C; 4UMAE H. Especialidades-CMNO, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco México., Magaña-Torres MT; 2División de Genética, Centro de investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, CIBO-IMSS, Guadalajara, Jalisco Mexico., González-García JR; 2División de Genética, Centro de investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, CIBO-IMSS, Guadalajara, Jalisco Mexico.
Jazyk: angličtina
Zdroj: Molecular cytogenetics [Mol Cytogenet] 2019 Jan 31; Vol. 12, pp. 2. Date of Electronic Publication: 2019 Jan 31 (Print Publication: 2019).
DOI: 10.1186/s13039-019-0417-5
Abstrakt: Background: 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 DLEU1 and DLEU2 genes (minimal deleted region), but at times also including the RB1 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.
Case Presentation: 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 DLEU and RB1 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 DLEU and RB1 genes, as well as other genes with potential for producing genomic instability due to haploinsufficiency.
Competing Interests: The authors declare to have complied with ethical standards. The data presented here are part of a research project approved by our institutional research and ethics committees (Instituto Mexicano del Seguro Social, Project # R-2013-785-071). Written informed consent was obtained from the patient for participating in this study.The patient gave his approval by signing an informed consent.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Databáze: MEDLINE
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