Background: The tumor protein p53 (TP53) gene may be inactivated through 17p13 deletion, somatic mutations, or both. In chronic lymphocytic leukemia (CLL) although 17p13 deletion is correlated with poor prognosis, the role of sole TP53 mutations remains controversial.
Materials And Methods: We carried out a mutation analysis of TP53 gene in 72 patients with CLL.
Results: Seventy-one (98.6%) patients carried the polymorphic site c.215C>G, p.Pro72Arg, but its presence was not correlated with overall survival (OS). Moreover, 19 (26.4%) patients carried a mutation of TP53. Among the eight detected mutations, to our knowledge, one (c.587G>A) has never been reported in the past. There was a correlation of the mutation burden with the stage of the disease (p=0.022), but not with OS. None of the detected mutations was individually correlated with OS.
Conclusion: The clinical significance of TP53 mutations is still a matter of debate and larger studies and meta-analyses are required to reach an unequivocal conclusion.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.21873/anticanres.11577 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods.
Am J Med Genet A
November 2024
McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Ring chromosome 17 and 17p13.3 deletion syndrome are phenotypically heterogeneous diseases with similar clinical features. The ring chromosome 17 phenotypic features range from the Miller-Dieker syndrome characterized by deletion of the PAFAH1B1 gene, lissencephaly, hypotonia, dysphagia, café au lait spots, and severe intellectual disability, to a milder phenotype characterized by microcephaly, seizures, delayed development, minor facial dysmorphic features, clinodactyly, short stature, café au lait spots, retinal flecking, and deletion of the YWHAE and CRK genes.
View Article and Find Full Text PDF17p13 (TP53) Deletions Are Associated With an Aggressive Phenotype but Unrelated to Patient Prognosis in Urothelial Bladder Carcinomas.
Genes Chromosomes Cancer
September 2024
Department of Urology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.
17p13 deletions including TP53 and other genes represent a common cause for reduced/lost p53 function in tumor cells. In this study, we analyzed the impact of 17p13 (TP53) deletions and p53 expression on tumor aggressiveness and patient prognosis in urothelial carcinoma. The 17p13 copy number status was analyzed by fluorescence in situ hybridization (FISH) on more than 2700 urothelial bladder carcinomas in a tissue microarray format.
View Article and Find Full Text PDFGenetic variability profiling of the p53 signaling pathway in chronic lymphocytic leukemia. Individual and combined analysis of TP53, MDM2 and NQO1 gene variants.
Ann Hematol
May 2024
Laboratorio de Farmacogenómica, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina.
TP53 gene disruption, including 17p13 deletion [del(17p)] and/or TP53 mutations, is a negative prognostic biomarker in chronic lymphocytic leukemia (CLL) associated with disease progression, treatment failure and shorter survival. Germline variants in p53 signaling pathway genes could also lead to p53 dysfunction, but their involvement in CLL has not been thoroughly evaluated. The aim of this study was to determine the association of TP53, MDM2 and NQO1 gene variability with clinical and genetic data of CLL patients.
View Article and Find Full Text PDFClinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.
Seizure
April 2024
Neurology Department, National Center for Children's Health China, Beijing Children Hospital affiliated to Capital Medical University, 56 Nanlishi Road, Xicheng District, Beijing 100045, China.
Purpose: PAFAH1B1, also known as LIS1, is associated with type I lissencephaly in humans, which is a severe developmental brain disorder believed to result from abnormal neuronal migration. Our objective was to characterize the genotypes and phenotypes of PAFAH1B1-related epilepsy.
Methods: We conducted a comprehensive analysis of the medical histories, magnetic resonance imaging findings, and video-electroencephalogram recordings of 11 patients with PAFAH1B1 variants at the Neurology Department of Beijing Children's Hospital from June 2017 to November 2022.
Cytogenetics in the management of myelodysplastic neoplasms (myelodysplastic syndromes, MDS): Guidelines from the groupe francophone de cytogénétique hématologique (GFCH).
Curr Res Transl Med
December 2023
Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest F-29200, France; CHRU Brest, Laboratoire de Génétique Chromosomique, Service de génétique, Brest, France. Electronic address:
Article Synopsis
- - Myelodysplastic neoplasms (MDS) are blood disorders often linked to chromosomal abnormalities, with 40-45% of cases showing these changes at diagnosis and up to 80% in post-treatment MDS.
- - Recent changes in classifications by the WHO and ICC have introduced a new entity focusing on biallelic TP53 inactivation, which necessitates detailed genetic investigations, particularly on the TP53 locus.
- - While molecular features are becoming more essential for diagnosing and prognosing MDS, traditional cytogenetics—including karyotyping—remains crucial, and new scoring systems have been developed combining genetic mutations with established cytogenetic parameters.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!