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PTEN mutation is rare in chondrosarcoma

Chuzhao Lin1, Patricia A Meitner, Richard M Terek

  • 1Department of Orthopaedics, Brown University School of Medicine, Providence, Rhode Island 02912, USA.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B
|February 21, 2002
PubMed

Insights

Genetic analysis of chondrosarcoma revealed that mutations in the PTEN tumor suppressor gene are rare. Loss of heterozygosity on chromosome 10q suggests other tumor suppressor genes are involved in chondrosarcoma development.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Chondrosarcoma is a prevalent adult bone cancer with poorly understood genetic drivers.
  • Loss of heterozygosity (LOH) on chromosome 10q is frequent in chondrosarcoma (67%).
  • The PTEN tumor suppressor gene resides on chromosome 10q23, implicating it in chondrosarcoma pathogenesis.

Purpose of the Study:

  • To investigate the role of PTEN gene alterations in chondrosarcoma development.
  • To determine if PTEN mutations or loss of function contribute to chondrosarcoma progression.

Main Methods:

  • Analysis of 40 chondrosarcoma tumors and derived cell lines.
  • Screening for mutations and alterations in the PTEN gene.

Main Results:

  • A single PTEN mutation, leading to a truncated protein, was identified in one case of metastasized extraskeletal myxoid chondrosarcoma.
  • Mutated PTEN was an infrequent event in the studied chondrosarcoma cohort.
  • The high rate of 10q LOH suggests the involvement of other tumor suppressor genes in these chromosomal regions.

Conclusions:

  • PTEN mutations are uncommon in chondrosarcoma development.
  • The frequent LOH on chromosome 10q points to the existence of additional, yet unidentified, tumor suppressor genes crucial for chondrosarcoma suppression.

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