title: PTEN mutation is rare in chondrosarcoma.
abstract: Chondrosarcoma is the second most common primary malignant neoplasm of bone in adults, but the major genetic events involved in the progression of this often-fatal cancer remain to be elucidated. Loss of heterozygosity of chromosome 10q has been reported in 67% of chondrosarcoma. The tumor suppressor gene PTEN is located on chromosome 10q, specifically 10q23, raising the possibility that the loss of PTEN function is responsible for some chondrosarcomas. The authors examined 40 chondrosarcoma tumors and tumor-derived cell lines for alterations in PTEN. Only one mutation resulting in a truncated PTEN protein was detected, which was in a metastasized extraskeletal myxoid chondrosarcoma. Thus, mutated PTEN is an uncommon event in the development of chondrosarcoma. The high frequency of loss of heterozygosity on 10q suggests the presence of additional tumor suppressor genes at these loci.
authors.affiliation: Department of Orthopaedics, Brown University School of Medicine, Providence, Rhode Island 02912, USA.
authors.forename: Chuzhao
authors.initials: C
authors.lastname: Lin
authors.forename: Patricia A
authors.initials: PA
authors.lastname: Meitner
authors.forename: Richard M
authors.initials: RM
authors.lastname: Terek
mesh_terms: D001859:Bone Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002813:Chondrosarcoma / Q000235:genetics* / Q000378:metabolism / Q000556:secondary; D004273:DNA, Neoplasm / Q000032:analysis; D006801:Humans; D008565:Membrane Proteins; D009154:Mutation; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics* / Q000378:metabolism; D017027:Protein Tyrosine Phosphatases; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured
chemical_list: D004273:DNA, Neoplasm; D008565:Membrane Proteins; D010744:Phosphoric Monoester Hydrolases; D017027:Protein Tyrosine Phosphatases; C446603:TPTE protein, human; D051059:PTEN Phosphohydrolase