Chromosome 17 abnormalities and TP53 mutations in adult soft tissue sarcomas Journal Article


Authors: Latres, E.; Drobnjak, M.; Pollack, D.; Oliva, M. R.; Ramos, M.; Karpeh, M.; Woodruff, J. M.; Cordon-Cardo, C.
Article Title: Chromosome 17 abnormalities and TP53 mutations in adult soft tissue sarcomas
Abstract: This study was designed to determine the frequency of structural genetic abnormalities of chromosome 17 and the incidence of TP53 mutations as they relate to the biological behavior of adults soft tissue sarcomas. We analyzed a group of 73 soft tissue sarcomas of adults that were clinically and pathologically well characterized using molecular genetic techniques and expression studies. We then correlated genotype and phenotype with pathological parameters. Overall, allelic loss of 17p and 17q was identified in 53 and 29% of informative cases, respectively. p53 nuclear overexpression was detected in 34% of the tumors analyzed. We observed an association between 17p deletions and tumor presentation being more frequent in recurrent and metastatic tumors than primary lesion. p53 nuclear overexpression was associated with tumor grade, size, and more frequently detected in metastatic than primary sarcomas. The 11 intragenic mutations characterized included 10 cases of single base substitution and one single base deletion; 8 were of the missense type and 3 were nonsense. It is concluded that 17p deletions and TP53 mutations are common events in adult soft tissue sarcomas and that due to the trends observed with the cohort of patients analyzed they may become prognostic markers for patients affected with these tumors.
Keywords: adult; human tissue; gene mutation; mutation; cancer grading; phenotype; tumor volume; genotype; alleles; heterozygote; protein p53; sarcoma; tumor suppressor gene; gene rearrangement; soft tissue sarcoma; tumor suppressor protein p53; cell nucleus; chromosome aberrations; chromosome deletion; chromosome loss; soft tissue neoplasms; chromosome 17q; genes, p53; chromosome 17p; chromosomes, human, pair 17; chromosome disorders; humans; human; priority journal; article
Journal Title: American Journal of Pathology
Volume: 145
Issue: 2
ISSN: 0002-9440
Publisher: Elsevier Science, Inc.  
Date Published: 1994-08-01
Start Page: 345
End Page: 355
Language: English
PROVIDER: scopus
PMCID: PMC1887397
PUBMED: 8053493
DOI/URL:
Notes: Export Date: 14 January 2019 -- Article -- Source: Scopus
Citation Impact
MSK Authors
  1. Martin S Karpeh
    98 Karpeh
  2. James M Woodruff
    162 Woodruff
  3. Daphna M. Pollack
    13 Pollack
  4. Esther Latres
    10 Latres