[Detection of ASPL-TFE3 fusion gene by reverse transcriptase polymerase chain reaction in paraffin-embedded tumor tissues of alveolar soft part sarcoma].
OBJECTIVE
To investigate the significance of detecting chimeric mRNA resulting from t(X;17)(p11.2;q25) in paraffin-embedded tumor tissues of alveolar soft part sarcoma (ASPS).


METHODS
Formalin-fixed, paraffin-embedded tumor tissues from 8 cases of alveolar soft part sarcoma and 15 cases of controls (including 6 alveolar rhabdomyosarcomas, 6 renal cell carcinomas, 2 paragangliomas and 1 granular cell myoblastoma) were retrieved from the archival materials. ASPL-TFE3 fusion transcripts were analyzed in all samples by reverse transcriptase-polymerase chain reaction (RT-PCR). The quality of the mRNA was assessed using the house-keeping gene beta-actin.


RESULTS
ASPL-TFE3 fusion transcripts were detected in 6 of the 8 ASPS cases (4 being type 2 and 2 being type 1). The remaining 2 cases were negative for both beta-actin and ASPL-TFE3. No ASPL-TFE3 mRNA expression was detected in all the controls. PAX3/7-FKHR fusion transcripts were also detected in 4 of the 6 alveolar rhabdomyosarcoma samples.


CONCLUSIONS
The expression of ASPL-TFE3 fusion transcripts in paraffin-embedded tumor tissues can serve as an useful molecular marker in the diagnosis of ASPS. It may also be helpful in elucidating the underlying pathogenesis of ASPS in subsequent retrospective studies.
Pang
Li-Juan
LJ
Laboratory of Xinjiang Endemic and Ethnic Diseases, Department of Pathology, Shihezi University, School of Medicine, Xinjiang 832002, China.
Li
Feng
F
Chang
Bin
B
Hu
Wen-Hao
WH
Lu
Tian-Cai
TC
Li
Xin-Xia
XX
Li
Hong-An
HA
Jiang
Jin-Fang
JF
D000293:Adolescent; D000328:Adult; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000096:biosynthesis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007866:Leg; D008297:Male; D009363:Neoplasm Proteins / Q000096:biosynthesis* / Q000235:genetics; D050596:Oncogene Fusion; D015514:Oncogene Proteins, Fusion / Q000096:biosynthesis* / Q000235:genetics; D009915:Orbit; D016612:Paraffin Embedding; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018234:Sarcoma, Alveolar Soft Part / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D012983:Soft Tissue Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D014178:Translocation, Genetic
C422743:ASPSCR1 protein, human; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D047908:Intracellular Signaling Peptides and Proteins; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger; C069203:TFE3 protein, human