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PAXFKHR Fusion Genes as well as AChR- in Chinese Patients With Rhabdomyosarcoma: Diagnosis Using Formalin-Fixed Archival Tissues

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

Li Juan Pang, MD

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

Yan Qi, MD

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

Chun Xia Liu, MD

Ying Cao, MD, PhD

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

Hong An Li, MD

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

Wen Hao Hu, MD

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

Jin Fang Jiang, MD, PhD

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

Wen Jie Zhang

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

Feng Li, MD, PhD

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

The infancy of alveolar RMSs have t(2;13)(q35;q14) or (1:13)(p36;q14),whichgenerate PAX3/7 -FKHR alloy genes. Here, a authors detectedthe PAX3/7-FKHR alloy transcripts in 17 formalin-fixed, paraffin-embeddedRMSs as well as twenty-six alternative SRCTs using one-step RT-PCR. PAX3 -FKHR andPAX7-FKHR transcripts were certain in 4/8 as well as 2/8 cases ofARMS, respectively. 9 ERMSs as well as twenty-six alternative SRCTs were negativefor PAX3/7-FKHR. In addition, AChR- as well as AChR- mRNA were detectedby semiquantitative duplex PCR in above cases as well as 3 normal muscles.17 RMSs were found to have overexpression of AChR-, with anAChR-/- ratio of 1; 3 cases of normal flesh had very weak AChR-expression, with an AChR- /- ratio of <1. AChR- transcriptswere not detectable in all twenty-six alternative SCRTs. The formula demonstratedthat detection of PAX3/7-FKHR alloy gene by one-step RT-PCRis utilitarian in a diagnosis of RMS as well as that AChR- is overexpressedin Chinese RMS patients.

Key Words: rhabdomyosarcoma PAXFKHR AChR molecular diagnosis RT-PCR

This version was published upon February1, 2009

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

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