Simultaneous occurrence of PAX8-PPARg and RET-PTC3 rearrangements in a follicular variant of papillary thyroid carcinoma

Am J Surg Pathol. 2012 Sep;36(9):1415-20. doi: 10.1097/PAS.0b013e318264bdd6.

Abstract

Specific genotype-phenotype correlations have been identified in conventional-type papillary thyroid carcinoma (PTC) and follicular thyroid carcinoma (FTC). In contrast, the genetic alterations underlying the pathogenesis of the follicular variant of PTC (FV-PTC), which shares some clinicopathologic and molecular features with both PTC and FTC, remain to be clarified. This entity shows a PAX8-PPARg fusion gene (associated with FTC), more frequently than BRAF or RET-PTC alterations (associated with PTC). Herein, we report, for the first time, an FV-PTC with the simultaneous occurrence of both RET-PTC and PAX8-PPARg alterations. Neoplastic cells were of the wild type for BRAF and H,K,N-RAS, had an apparently normal karyotype by conventional cytogenetics, and had a balanced genome by array comparative genomic hybridization analysis. In fact, submicroscopic chromosome rearrangements producing RET-PTC3 and PAX8-PPARg chimeric genes were found by interphase fluorescence in situ hybridization. We demonstrated that these 2 genetic alterations coexisted in the same tumor and were confined to 2 different clones. Our findings indicate that molecular heterogeneity, although an uncommon phenomenon, may occur in thyroid carcinoma and demonstrate the coexistence in a case of FV-PTC not only of the histologic but also of the molecular features of both PTC (RET-PTC) and FTC (PAX8-PPARg).

Publication types

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

MeSH terms

  • Carcinoma, Papillary, Follicular / genetics*
  • Carcinoma, Papillary, Follicular / pathology
  • Cells, Cultured
  • DNA, Neoplasm / analysis
  • Female
  • Gene Rearrangement*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Middle Aged
  • Nuclear Receptor Coactivators / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Thyroid Neoplasms / genetics*
  • Thyroid Neoplasms / pathology
  • Thyroidectomy

Substances

  • DNA, Neoplasm
  • NCOA4 protein, human
  • Nuclear Receptor Coactivators
  • Oncogene Proteins, Fusion
  • PAX8-PPARgamma fusion protein, human