Document Detail

Identification of a transcriptionally inactive p53 mutant by functional analysis of separated alleles in yeasts (FASAY) in a child osteosarcoma tumor: a case report.
MedLine Citation:
PMID:  15205094     Owner:  NLM     Status:  MEDLINE    
Tumor suppressor gene p53 is one of the most specific genetic alterations occurring in osteosarcoma pathogenesis. It is thought to be an early and key step in the tumorigenesis of osteosarcoma. However, whether the p53 status is a marker predictive of response to therapy and a marker of prognostic value remains controversial. The choice of p53 status detection method certainly account for discrepancies. The authors used a simple functional assay (functional analysis of separated alleles in yeast) on the tumor sample of an 8-year-old girl presenting with an osteosarcoma of the tibia. While making it possible to exclude the presence of a germline mutation, FASAY indicated the presence of a somatic p53 mutation lacking transcriptional activity on p21 and bax target genes. FASAY also strongly suggested a loss of heterozygosity p53, which was confirmed by cytogenetic analysis. Sequencing of cDNA extracted from yeast colonies containing mutated p53 identified a 213 stop mutation in exon 6. Despite these p53 alterations, the child is still in complete remission after a follow-up of 48 months.
Anne-France Dekairelle; Bénédicte Brichard; Huguette Delhez; Jean-Luc Gala
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric hematology and oncology     Volume:  21     ISSN:  0888-0018     ISO Abbreviation:  Pediatr Hematol Oncol     Publication Date:  2004 Jun 
Date Detail:
Created Date:  2004-06-18     Completed Date:  2005-03-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8700164     Medline TA:  Pediatr Hematol Oncol     Country:  England    
Other Details:
Languages:  eng     Pagination:  321-8     Citation Subset:  IM    
Applied Molecular Technologies, Center for Human Genetics, Université Catholique de Louvain, Bruxelles, Belgium.
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MeSH Terms
Codon, Nonsense
DNA Mutational Analysis / methods*
Loss of Heterozygosity
Osteosarcoma / genetics*
Tibia / pathology
Transcription, Genetic*
Tumor Suppressor Protein p53 / genetics*
Reg. No./Substance:
0/Codon, Nonsense; 0/Tumor Suppressor Protein p53

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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