[Diagnostic significance and clinical application of specific chimeric genes in soft tissue sarcomas by RT-PCR using paraffin-embedded tissues: a study of 103 specimens].

Abstract

OBJECTIVE:

To investigate the expression of the chimeric genes resulting from the specific chromosomal translocations in soft tissue sarcomas (STS) and its diagnostic significance for STS.

METHODS:

The variety of fusion transcripts were detected in 103 cases of STS, including 30 cases of synovial sarcoma (SS), 15 cases of rhabdomyosarcoma (RMS), 25 cases of Ewing's sarcoma/peripheral primitive neuroectodermal tumors (ES/pPNET), 12 cases of dermatofibrosarcoma protuberans (DFSP), 14 cases of aveolar soft part sarcoma (ASPS), 3 cases of leiomyosarcoma (LMS), 2 cases of malignant fibrous histocytoma (MFH), and 2 cases of fibrosarcoma (FS); and 20 cases of control tumors by reverse transcription-polymerase chain reaction (RT-PCR) using formalin fixed, paraffin embedded specimens.

RESULTS:

Of the 34 cases of SS 28 (93.3%) expressed SSX-SYT chimeric transcripts (14 were positive for SYT-SSX1, 9 for SYT-SSX2). Four of the six cases of alveolar RMS had a PAX3/PAX7-FKHR fusion transcript. None of the 9 cases of embryonic and polymorphic RMS expressed PAX3/PAX7-FKHR. Of the 25 cases of ES/pPNET, 19 were positive for EWS-FLI1 fusion transcript and 1 for EWS-ERG fusion transcript. COL1A1-PDGFB fusion transcript was expressed in 8 of the 12 cases (66.7%) of DFSP. Of the fourteen cases of ASPS, ten expressed ASPL-TFE3 fusion transcript. None of the 3 cases of LMS, 2 cases of MFH, 2 cases of FS, and 20 control cases contained any of the fusion transcript.

CONCLUSION:

Chimeric gene transcript resulting from specific chromosomal translocations is a reliable index for the molecular diagnosis of STS and RT-PCR assay for detection of specific fusion gene provides a useful tool for confirmation of the diagnosis of STS in diagnostically difficult cases and in retrospective studies.

• Authors: Feng Li, Xin-Xia Li, Bin Chang, Li-Juan Pang, Jiang-Hua Yang, Wen-Hao Hu, Tian-Cai Lu, Hong-An Li, Jian Wang, Hong-Fen Lu, Meng-Hong Sun, Da-Ren Shi
• Journal: Zhonghua yi xue za zhi (Zhonghua Yi Xue Za Zhi) Vol. 84 Issue 18 Pg. 1518-21 (Sep 17 2004) ISSN: 0376-2491 [Print] China
• PMID: 15500711 (Publication Type: English Abstract, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• EWS-FLI fusion protein
• Homeodomain Proteins
• Oncogene Proteins, Fusion
• PAX7 Transcription Factor
• PAX7 protein, human
• Proto-Oncogene Protein c-fli-1
• RNA-Binding Protein EWS
• Recombinant Fusion Proteins
• SYT-SSX fusion protein
• Transcription Factors

Topics

• Artificial Gene Fusion
• Base Sequence
• Homeodomain Proteins (biosynthesis, genetics)
• Humans
• Molecular Sequence Data
• Oncogene Proteins, Fusion (biosynthesis, genetics)
• PAX7 Transcription Factor
• Paraffin Embedding
• Proto-Oncogene Protein c-fli-1
• RNA-Binding Protein EWS
• Recombinant Fusion Proteins (genetics)
• Reverse Transcriptase Polymerase Chain Reaction
• Sarcoma (genetics)
• Sarcoma, Synovial (genetics)
• Soft Tissue Neoplasms (genetics)
• Transcription Factors (biosynthesis, genetics)
• Transcription, Genetic
• Translocation, Genetic