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Related Experiment Videos

APC mutations in synovial sarcoma.

Tsuyoshi Saito1, Yoshinao Oda, Akio Sakamoto

  • 1Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

The Journal of Pathology
|March 29, 2002
PubMed
Summary

APC gene mutations are found in synovial sarcoma, correlating with beta-catenin accumulation. These APC mutations, unlike beta-catenin mutations, were observed in long-term survivors of this cancer.

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Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Accumulated beta-catenin acts as an oncoprotein in synovial sarcoma, linked to poor survival.
  • Beta-catenin mutations are infrequent in synovial sarcoma (8.2%).

Purpose of the Study:

  • To investigate genetic alterations in the APC gene's mutation cluster region (MCR) in synovial sarcoma.
  • To determine the frequency and characteristics of APC mutations in synovial sarcoma.

Main Methods:

  • Screening of 49 synovial sarcoma cases for APC gene mutations in the MCR.
  • Utilizing Single-Strand Conformation Polymorphism (SSCP) analysis and direct DNA sequencing.

Main Results:

  • Identified five missense APC mutations in four synovial sarcoma cases (8.2% frequency).

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  • Mutations occurred at codons 1299, 1412, 1414, and a double mutation at codons 1398 and 1413.
  • One case also presented a beta-catenin mutation at codon 32.
  • All four cases with APC mutations were monophasic fibrous type and showed beta-catenin accumulation.
  • Three cases with APC mutations with follow-up data were long survivors.
  • Conclusions:

    • APC mutations occur in synovial sarcoma, representing a novel finding in sarcoma genetics.
    • APC mutations in synovial sarcoma are associated with beta-catenin accumulation and potentially favorable long-term outcomes.