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Published on: September 20, 2016

Mutational analysis of PIK3CA, JAK2, BRAF, FOXL2, IDH1, AKT1 and EZH2 oncogenes in sarcomas

Eun M Je1, Chang H An, Nam J Yoo

  • 1Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.

APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica
|July 12, 2012
PubMed

Insights

Recurrent PIK3CA and JAK2 gene mutations were found in a small percentage of sarcomas. These specific oncogene alterations may not be primary drivers in sarcoma development.

Area of Science:

  • Oncology
  • Cancer Genetics

Background:

  • Recurrent oncogene mutations are key in tumorigenesis and cancer therapy targets.
  • Genetic landscape of sarcomas remains less understood compared to carcinomas.

Purpose of the Study:

  • To investigate the presence of known recurrent oncogene mutations in various sarcoma types.
  • To determine if common oncogene alterations found in other cancers are present in sarcomas.

Main Methods:

  • Analyzed 108 sarcomas for mutations in PIK3CA, JAK2, BRAF, FOXL2, IDH1, AKT1, and EZH2 genes.
  • Utilized single-strand conformation polymorphism and DNA sequencing for mutational analysis.

Main Results:

  • Detected three mutations in total: two PIK3CA and one JAK2 mutation (2.8% of cases).
  • Mutations were identified in two rhabdomyosarcomas and one angiosarcoma.
  • PIK3CA mutations were novel missense types; JAK2 mutation was intronic.

Conclusions:

  • Somatic mutations in PIK3CA and JAK2 occur infrequently in sarcomas.
  • These specific mutations likely do not play a major role in the pathogenesis of most sarcomas.

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