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p16INK4A (CDKN2A) gene deletion is a frequent genetic event in synovial sarcomas

Manish M Subramaniam1, Rosa Noguera, Marta Piqueras

  • 1Department of Pathology, Medical School, University of Valencia, Spain.

American Journal of Clinical Pathology
|November 1, 2006
PubMed

Insights

Genomic deletion of the p16INK4A (CDKN2A) gene is common in synovial sarcomas (SSs), frequently correlating with abnormal p16 protein expression and increased cyclin D1 levels.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Synovial sarcoma (SS) is a rare soft tissue sarcoma.
  • The role of p16INK4A (CDKN2A) gene alterations in SS pathogenesis requires further investigation.

Purpose of the Study:

  • To determine the frequency of p16INK4A (CDKN2A) genomic deletion in SS.
  • To assess the association between p16INK4A deletion, p16 and cyclin D1 immunoexpression, and the Ki-67 proliferation index in SS.

Main Methods:

  • Dual-color fluorescence in situ hybridization (FISH) was employed on tissue microarray sections.
  • Analysis included 41 histologically and molecularly confirmed SS cases.

Main Results:

  • Heterozygous p16INK4A deletion was found in 74% of SS cases.
  • Abnormal p16 protein expression was observed in 89% of cases with p16INK4A deletion.
  • Increased cyclin D1 expression was associated with p16INK4A deletion in 76% of relevant cases.

Conclusions:

  • Genomic deletion of p16INK4A (CDKN2A) is a frequent genetic event in synovial sarcoma.
  • p16INK4A deletion is linked to altered p16 protein levels and increased cyclin D1 expression in SS.

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