Expression of PAX8-PPAR gamma 1 rearrangements in both follicular thyroid carcinomas and adenomas

J Clin Endocrinol Metab. 2002 Aug;87(8):3947-52. doi: 10.1210/jcem.87.8.8756.

Abstract

Recently, a translocation t(2;3)(q13;p25), leading to the formation of a chimeric PAX8-peroxisome proliferator-activated receptor (PPAR)gamma 1 oncogene, was detected in follicular thyroid carcinomas (FTC), but not in follicular thyroid adenomas (FTA), papillary thyroid carcinomas (PTC), or multinodular hyperplasias. However, previous cytogenetic studies have identified the t(2;3)(q13;p25) translocation also in some cases of FTA. In this study, we have combined RT-PCR with primers in exons 4-8 of PAX8 and in exon 1 of PPAR gamma 1 with PPAR gamma immunohistochemistry to study PAX8-PPAR gamma 1 oncogene activation in FTC (n = 9), FTA (n = 16), PTC (n = 9), anaplastic thyroid carcinomas (n = 4), and multinodular hyperplasias (n = 2). PAX8-PPAR gamma 1 rearrangements were detected by RT-PCR in 5 of 9 (56%) FTC and in 2 of 16 (13%) FTA. By contrast, all cases of PTC, anaplastic thyroid carcinomas, and multinodular hyperplasia were RT-PCR-negative. Diffuse nuclear immunoreactivity for PPAR gamma was observed in 7 of 9 (78%) FTC, 5 of 16 FTA (31%), and 1 of 9 PTC (11%). Positivity was focal in 3 cases (1 FTC, 1 PTC, and 1 multinodular hyperplasia). Diffuse nuclear staining for PPAR gamma was present in RT-PCR- negative cases of FTC (n = 3), FTA (n = 3), and PTC (n = 1), suggesting that a different PAX8-PPAR gamma 1 breakpoint, a rearrangement between PPAR gamma 1 and a non-PAX8 partner, or overexpression of the native protein might be present. Our findings that PAX8-PPAR gamma 1 rearrangements are present in both follicular carcinomas and adenomas suggest that this oncogene is not a reliable marker to differentiate between FTC and FTA in fine-needle aspiration biopsies of follicular neoplasms of the thyroid.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenoma / chemistry
  • Adenoma / genetics*
  • Biomarkers, Tumor / genetics
  • Carcinoma / chemistry
  • Carcinoma / genetics
  • DNA-Binding Proteins / genetics*
  • Gene Expression Regulation, Neoplastic
  • Gene Rearrangement*
  • Humans
  • Immunohistochemistry
  • Karyotyping
  • Nuclear Proteins*
  • PAX8 Transcription Factor
  • Paired Box Transcription Factors
  • Receptors, Cytoplasmic and Nuclear / analysis
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Thyroid Neoplasms / chemistry
  • Thyroid Neoplasms / genetics*
  • Trans-Activators / genetics*
  • Transcription Factors / analysis
  • Transcription Factors / genetics*
  • Translocation, Genetic

Substances

  • Biomarkers, Tumor
  • DNA-Binding Proteins
  • Nuclear Proteins
  • PAX8 Transcription Factor
  • PAX8 protein, human
  • Paired Box Transcription Factors
  • Receptors, Cytoplasmic and Nuclear
  • Trans-Activators
  • Transcription Factors