p53 mutations in chondrosarcoma Journal Article


Authors: Terek, R. M.; Healey, J. H.; Garin-Chesa, P.; Mak, S.; Huvos, A.; Albino, A. P.
Article Title: p53 mutations in chondrosarcoma
Abstract: Chondrosarcoma is a primary bone tumor that has several different grades and variants. We evaluated 48 chondrosarcomas for p53 overexpression and p53 mutations, p53 expression was evaluated with immunohistochemistry using monoclonal antibodies PAb421, PAb1801, and PAb240, p53 mutations were identified with single-strand conformational polymorphism (SSCP) and DNA sequencing in selected cases. Immunohistochemistry revealed nuclear staining with PAb421 and PAb1801 in the spindle cell portion of one dedifferentiated chondrosarcoma. SSCP analysis was abnormal only in the case with positive immunostaining and localized the mutation to exons 7 and 8. DNA sequence analysis identified a point mutation of G to C in codon 276, resulting in an amino acid substitution of proline for alanine. This point mutation has been reported previously in other tumors but not in chondrosarcoma. Assimilation of our results with previous studies suggests that p53 mutations are present in a minority of chondrosarcomas but when present, are in higher grade chondrosarcomas and their variants.
Keywords: immunohistochemistry; clinical article; controlled study; human tissue; bone neoplasms; gene mutation; mutation; gene overexpression; amino acid substitution; cell differentiation; protein p53; monoclonal antibody; rna; tumor suppressor gene; dna; guanine; tumor suppressor protein p53; dna sequence; alanine; point mutation; tumor suppressor genes; chondrosarcoma; p53; staining and labeling; proline; sequence analysis, dna; cartilage; bone tumors; cytosine; single strand conformation polymorphism; polymorphism, single-stranded conformational; humans; human; priority journal; article; single- strand conformational polymorphism
Journal Title: Diagnostic Molecular Pathology
Volume: 7
Issue: 1
ISSN: 1052-9551
Publisher: Lippincott Williams & Wilkins  
Date Published: 1998-02-01
Start Page: 51
End Page: 56
Language: English
DOI: 10.1097/00019606-199802000-00009
PUBMED: 9646035
PROVIDER: scopus
DOI/URL:
Notes: Source: Scopus
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MSK Authors
  1. John H Healey
    547 Healey
  2. Andrew G Huvos
    289 Huvos
  3. Anthony P. Albino
    111 Albino