PAX--FKHR fusion genes and AChR-gamma in Chinese patients with rhabdomyosarcoma: diagnosis using formalin-fixed archival tissues

Int J Surg Pathol. 2009 Feb;17(1):6-15. doi: 10.1177/1066896908323922. Epub 2008 Nov 6.

Abstract

The majority of alveolar RMSs have t(2;13)(q35;q14) or (1:13)(p36;q14),which generate PAX3/7 -FKHR fusion genes. Here, the authors detected the PAX3/7-FKHR fusion transcripts in 17 formalin-fixed, paraffin-embedded RMSs and 26 other SRCTs using one-step RT-PCR. PAX3 -FKHR and PAX7-FKHR transcripts were positive in 4/8 and 2/8 cases of ARMS, respectively. 9 ERMSs and 26 other SRCTs were negative for PAX3/7-FKHR. In addition, AChR-gamma and AChR-alpha mRNA were detected by semiquantitative duplex PCR in above cases and 3 normal muscles. 17 RMSs were found to have overexpression of AChR-gamma, with an AChR-gamma/-alpha ratio of > or =1; 3 cases of normal muscle had very weak AChR-gamma expression, with an AChR- gamma/-alpha ratio of <1. AChR-gamma transcripts were not detectable in all 26 other SCRTs. The results demonstrated that detection of PAX3/7-FKHR fusion gene by one-step RT-PCR is useful in the diagnosis of RMS and that AChR-gamma is overexpressed in Chinese RMS patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism
  • Case-Control Studies
  • Child
  • Child, Preschool
  • China
  • Female
  • Fixatives
  • Forkhead Box Protein O1
  • Forkhead Transcription Factors / genetics*
  • Forkhead Transcription Factors / metabolism
  • Formaldehyde
  • Gene Expression Regulation, Neoplastic
  • Gene Fusion / genetics*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • PAX3 Transcription Factor
  • PAX7 Transcription Factor / genetics*
  • PAX7 Transcription Factor / metabolism
  • Paired Box Transcription Factors / genetics*
  • Paired Box Transcription Factors / metabolism
  • RNA, Messenger / metabolism
  • Receptors, Cholinergic / metabolism*
  • Receptors, Nicotinic / metabolism
  • Rhabdomyosarcoma, Alveolar / diagnosis*
  • Rhabdomyosarcoma, Alveolar / ethnology
  • Rhabdomyosarcoma, Alveolar / genetics
  • Rhabdomyosarcoma, Alveolar / metabolism
  • Soft Tissue Neoplasms / diagnosis*
  • Soft Tissue Neoplasms / ethnology
  • Soft Tissue Neoplasms / genetics
  • Soft Tissue Neoplasms / metabolism
  • Young Adult

Substances

  • Biomarkers, Tumor
  • CHRNG protein, human
  • FOXO1 protein, human
  • Fixatives
  • Forkhead Box Protein O1
  • Forkhead Transcription Factors
  • PAX3 Transcription Factor
  • PAX3 protein, human
  • PAX7 Transcription Factor
  • PAX7 protein, human
  • Paired Box Transcription Factors
  • RNA, Messenger
  • Receptors, Cholinergic
  • Receptors, Nicotinic
  • Formaldehyde