title: PAX--FKHR fusion genes and AChR-gamma in Chinese patients with rhabdomyosarcoma: diagnosis using formalin-fixed archival tissues.
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.
authors.affiliation: Department of Pathology and Laboratory of Xinjiang Endemic and Ethnic Diseases, Shihezi University School of Medicine, Shihezi, Xinjiang, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Chang
authors.forename: Li Juan
authors.initials: LJ
authors.lastname: Pang
authors.forename: Yan
authors.initials: Y
authors.lastname: Qi
authors.forename: Chun Xia
authors.initials: CX
authors.lastname: Liu
authors.forename: Ying
authors.initials: Y
authors.lastname: Cao
authors.forename: Hong An
authors.initials: HA
authors.lastname: Li
authors.forename: Wen Hao
authors.initials: WH
authors.lastname: Hu
authors.forename: Jin Fang
authors.initials: JF
authors.lastname: Jiang
authors.forename: Wen Jie
authors.initials: WJ
authors.lastname: Zhang
authors.forename: Feng
authors.initials: F
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D005404:Fixatives; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors / Q000235:genetics* / Q000378:metabolism; D005557:Formaldehyde; D015972:Gene Expression Regulation, Neoplastic; D050939:Gene Fusion / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D000072041:PAX3 Transcription Factor; D051763:PAX7 Transcription Factor / Q000235:genetics* / Q000378:metabolism; D051761:Paired Box Transcription Factors / Q000235:genetics* / Q000378:metabolism; D012333:RNA, Messenger / Q000378:metabolism; D011950:Receptors, Cholinergic / Q000378:metabolism*; D011978:Receptors, Nicotinic / Q000378:metabolism; D018232:Rhabdomyosarcoma, Alveolar / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics / Q000378:metabolism; D012983:Soft Tissue Neoplasms / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics / Q000378:metabolism; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor; C539275:CHRNG protein, human; C085126:FOXO1 protein, human; D005404:Fixatives; D000071161:Forkhead Box Protein O1; D051858:Forkhead Transcription Factors; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051763:PAX7 Transcription Factor; C497321:PAX7 protein, human; D051761:Paired Box Transcription Factors; D012333:RNA, Messenger; D011950:Receptors, Cholinergic; D011978:Receptors, Nicotinic; D005557:Formaldehyde