t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma

Genes Chromosomes Cancer. 2009 Dec;48(12):1051-6. doi: 10.1002/gcc.20706.

Abstract

Myoepithelial neoplasms of soft tissue have only recently been acknowledged as a separate diagnostic entity. To know based on histological appearance whether these tumors are benign or malignant is often difficult, and their tumorigenic mechanisms remain poorly understood. We report a myoepithelial carcinoma with an aberrant near-diploid karyotype, 43 approximately 47,XX,add(1)(p34)x2,add(3)(q27)x2,del(12)(q22),+add(18)(p11)x2,del(22)(q11),+r, found in cells cultured from a lung metastasis. The deletion in 22q led us to search by molecular cytogenetic means for possible EWSR1 rearrangements, and eventually a novel chimeric gene consisting of the 5'-end of EWSR1 (22q12) and the 3'-end of ZNF444 (19q13) was found. How the new fusion gene contributes to tumorigenesis is unknown, but the finding of an EWSR1 rearrangement suggests that this, possibly even the EWSR1-ZNF444, is a defining pathogenetic feature of at least a subset of these tumors.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Calmodulin-Binding Proteins / genetics*
  • Calmodulin-Binding Proteins / metabolism
  • Chromosomes, Human, Pair 19 / genetics*
  • Chromosomes, Human, Pair 22 / genetics*
  • Female
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Immunoenzyme Techniques
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Kruppel-Like Transcription Factors / genetics*
  • Kruppel-Like Transcription Factors / metabolism
  • Lung Neoplasms / genetics
  • Lung Neoplasms / secondary
  • Myoepithelioma / genetics*
  • Myoepithelioma / pathology
  • Oncogene Proteins, Fusion / genetics*
  • Oncogene Proteins, Fusion / metabolism
  • Polymerase Chain Reaction
  • RNA-Binding Protein EWS
  • RNA-Binding Proteins / genetics*
  • RNA-Binding Proteins / metabolism
  • Translocation, Genetic / genetics*

Substances

  • Calmodulin-Binding Proteins
  • EWSR1 protein, human
  • Kruppel-Like Transcription Factors
  • Oncogene Proteins, Fusion
  • RNA-Binding Protein EWS
  • RNA-Binding Proteins
  • ZNF71 protein, human