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.
authors.affiliation: Department of Orthopaedics, Rhode Island Hospital and Providence Veterans Administration Medical Center, Providence, USA.
authors.forename: R M
authors.initials: RM
authors.lastname: Terek
authors.forename: J H
authors.initials: JH
authors.lastname: Healey
authors.forename: P
authors.initials: P
authors.lastname: Garin-Chesa
authors.forename: S
authors.initials: S
authors.lastname: Mak
authors.forename: A
authors.initials: A
authors.lastname: Huvos
authors.forename: A P
authors.initials: AP
authors.lastname: Albino
mesh_terms: D001859:Bone Neoplasms / Q000737:chemistry / Q000235:genetics*; D002454:Cell Differentiation / Q000235:genetics; D002813:Chondrosarcoma / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D009154:Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D013194:Staining and Labeling; D016159:Tumor Suppressor Protein p53 / Q000032:analysis / Q000235:genetics*
chemical_list: D016159:Tumor Suppressor Protein p53