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PAX—FKHR Fusion Genes and AChR- in Chinese Patients With Rhabdomyosarcoma: Diagnosis Using Formalin-Fixed Archival Tissues

Department of Pathology and Laboratory of Xinjiang Endemic and Ethnic Diseases, Shihezi University School of Medicine, Shihezi, Xinjiang, China

Li Juan Pang, MD

Department of Pathology and Laboratory of Xinjiang Endemic and Ethnic Diseases, Shihezi University School of Medicine, Shihezi, Xinjiang, China, Cancer Center of Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China

Yan Qi, MD

Department of Pathology and Laboratory of Xinjiang Endemic and Ethnic Diseases, Shihezi University School of Medicine, Shihezi, Xinjiang, China

Chun Xia Liu, MD

Ying Cao, MD, PhD

Department of Pathology, the University of Texas M. D. Anderson Cancer Center, Houston, TX, USA

Hong An Li, MD

Department of Pathology and Laboratory of Xinjiang Endemic and Ethnic Diseases, Shihezi University School of Medicine, Shihezi, Xinjiang, China

Wen Hao Hu, MD

Department of Pathology and Laboratory of Xinjiang Endemic and Ethnic Diseases, Shihezi University School of Medicine, Shihezi, Xinjiang, China

Jin Fang Jiang, MD, PhD

Department of Pathology and Laboratory of Xinjiang Endemic and Ethnic Diseases, Shihezi University School of Medicine, Shihezi, Xinjiang, China

Wen Jie Zhang

Department of Immunology, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China

Feng Li, MD, PhD

Department of Pathology and Laboratory of Xinjiang Endemic and Ethnic Diseases, Shihezi University School of Medicine, Shihezi, Xinjiang, China, lifeng7855{at}yahoo.com.cn

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- and AChR- mRNA were detected by semiquantitative duplex PCR in above cases and 3 normal muscles. 17 RMSs were found to have overexpression of AChR-, with an AChR-/- ratio of 1; 3 cases of normal muscle had very weak AChR- expression, with an AChR- /- ratio of <1. AChR- 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- is overexpressed in Chinese RMS patients.

Key Words: rhabdomyosarcoma • PAX—FKHR • AChR • molecular diagnosis • RT-PCR

This version was published on February 1, 2009

International Journal of Surgical Pathology, Vol. 17, No. 1, 6-15 (2009)
DOI: 10.1177/1066896908323922


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