Low Prevalence of TP53 Mutations and MDM2 Amplifications in Pediatric Rhabdomyosarcoma
Joint Authors
Olivier, Magali
Martel, Ghyslaine
Ognjanovic, Simona
Langer, Erica
Hainaut, Pierre
Manivel, J. Carlos
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-03-07
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
The tumor suppressor gene TP53 is the most commonly mutated gene in human cancer.
The reported prevalence of mutations in rhabdomyosarcoma (RMS) varies widely, with recent larger studies suggesting that TP53 mutations in pediatric RMS may be extremely rare.
Overexpression of MDM2 also attenuates p53 function.
We have performed TP53 mutation/MDM2 amplification analyses in the largest series analyzed thus far, including DNA isolated from 37 alveolar and 38 embryonal RMS tumor samples obtained from the Cooperative Human Tissue Network (CHTN).
Available samples were frozen tumor tissues (N=48) and histopathology slides.
TP53 mutations in exons 4–9 were analyzed by direct sequencing in all samples, and MDM2 amplification analysis was performed by differential PCR on a subset of 22 samples.
We found only one sample (1/75, 1.3%) carrying a TP53 mutation at codon 259 (p.D259Y) and no MDM2 amplification.
Two SNPs in the TP53 pathway, associated with accelerated tumor onset in germline TP53 mutation carriers, (TP53 SNP72 (rs no.
1042522) and MDM2 SNP309 (rs no.
2279744)), were not found to confer earlier tumor onset.
In conclusion, we confirm the extremely low prevalence of TP53 mutations/MDM2 amplifications in pediatric RMS (1.33% and 0%, respectively).
The possible inactivation of p53 function by other mechanisms thus remains to be elucidated.
American Psychological Association (APA)
Ognjanovic, Simona& Martel, Ghyslaine& Manivel, J. Carlos& Olivier, Magali& Langer, Erica& Hainaut, Pierre. 2012. Low Prevalence of TP53 Mutations and MDM2 Amplifications in Pediatric Rhabdomyosarcoma. Sarcoma،Vol. 2012, no. 2012, pp.1-6.
https://search.emarefa.net/detail/BIM-475926
Modern Language Association (MLA)
Ognjanovic, Simona…[et al.]. Low Prevalence of TP53 Mutations and MDM2 Amplifications in Pediatric Rhabdomyosarcoma. Sarcoma No. 2012 (2012), pp.1-6.
https://search.emarefa.net/detail/BIM-475926
American Medical Association (AMA)
Ognjanovic, Simona& Martel, Ghyslaine& Manivel, J. Carlos& Olivier, Magali& Langer, Erica& Hainaut, Pierre. Low Prevalence of TP53 Mutations and MDM2 Amplifications in Pediatric Rhabdomyosarcoma. Sarcoma. 2012. Vol. 2012, no. 2012, pp.1-6.
https://search.emarefa.net/detail/BIM-475926
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-475926