14-3-3 fusion oncogenes in high-grade endometrial stromal sarcoma

Proc Natl Acad Sci U S A. 2012 Jan 17;109(3):929-34. doi: 10.1073/pnas.1115528109. Epub 2012 Jan 5.

Abstract

14-3-3 proteins are ubiquitously expressed regulators of various cellular functions, including proliferation, metabolism, and differentiation, and altered 14-3-3 expression is associated with development and progression of cancer. We report a transforming 14-3-3 oncoprotein, which we identified through conventional cytogenetics and whole-transcriptome sequencing analysis as a highly recurrent genetic mechanism in a clinically aggressive form of uterine sarcoma: high-grade endometrial stromal sarcoma (ESS). The 14-3-3 oncoprotein results from a t(10;17) genomic rearrangement, leading to fusion between 14-3-3ε (YWHAE) and either of two nearly identical FAM22 family members (FAM22A or FAM22B). Expression of YWHAE-FAM22 fusion oncoproteins was demonstrated by immunoblot in t(10;17)-bearing frozen tumor and cell line samples. YWHAE-FAM22 fusion gene knockdowns were performed with shRNAs and siRNAs targeting various FAM22A exons in an t(10;17)-bearing ESS cell line (ESS1): Fusion protein expression was inhibited, with corresponding reduction in cell growth and migration. YWHAE-FAM22 maintains a structurally and functionally intact 14-3-3ε (YWHAE) protein-binding domain, which is directed to the nucleus by a FAM22 nuclear localization sequence. In contrast to classic ESS, harboring JAZF1 genetic fusions, YWHAE-FAM22 ESS display high-grade histologic features, a distinct gene-expression profile, and a more aggressive clinical course. Fluorescence in situ hybridization analysis demonstrated absolute specificity of YWHAE-FAM22A/B genetic rearrangement for high-grade ESS, with no fusions detected in other uterine and nonuterine mesenchymal tumors (55 tumor types, n = 827). These discoveries reveal diagnostically and therapeutically relevant models for characterizing aberrant 14-3-3 oncogenic functions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 14-3-3 Proteins / genetics
  • 14-3-3 Proteins / metabolism*
  • Cell Nucleus / metabolism
  • Cell Transformation, Neoplastic / genetics
  • Cell Transformation, Neoplastic / pathology
  • Chromosomes, Human, Pair 10 / genetics
  • Chromosomes, Human, Pair 17 / genetics
  • Co-Repressor Proteins
  • Cytogenetic Analysis
  • DNA-Binding Proteins
  • Disease Progression
  • Female
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic
  • Gene Rearrangement / genetics
  • Genome, Human / genetics
  • Humans
  • Molecular Sequence Data
  • Neoplasm Grading
  • Neoplasm Proteins / metabolism
  • Oncogene Proteins, Fusion / metabolism*
  • Protein Binding
  • Protein Transport
  • Sarcoma, Endometrial Stromal / genetics
  • Sarcoma, Endometrial Stromal / metabolism*
  • Sarcoma, Endometrial Stromal / pathology*
  • Sequence Analysis, DNA
  • Transcriptome
  • Translocation, Genetic

Substances

  • 14-3-3 Proteins
  • Co-Repressor Proteins
  • DNA-Binding Proteins
  • JAZF1 protein, human
  • Neoplasm Proteins
  • Oncogene Proteins, Fusion
  • YWHAE protein, human
  • YWHAE-FAM22 fusion protein, human

Associated data

  • GENBANK/JN999698
  • GENBANK/JN999699