Expression of fusion gene PAX3/PAX7-FKHR and chromosomal aberration in rhabdomyosarcoma / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 42-47, 2007.
Article
em Zh
| WPRIM
| ID: wpr-285036
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To detect the PAX3/PAX7-FKHR fusion transcripts to identify genetic alteration in embryonal rhabdomyosarcoma (ERMS) and alveolar rhabdomyosarcoma (ARMS) tissues.</p><p><b>METHODS</b>One-step reverse transcription- polymerase chain reaction (RT-PCR) were used to detect the expression of the PAX3/PAX7-FKHR fusion transcrips in 16 cases of rhabdomyosarcoma (7 cases of ARMS, 9 cases of ERMS) and 16 specimens were compared to the surrounding normal tissue. Comparative genomic hybridization (CGH) was employed to detect the genomic imbalance (DNA loss or amplification) in 16 RMS cases.</p><p><b>RESULTS</b>PAX3-FKHR fusion transcripts were positive in 3/7 and PAX 7-FKHR fusion transcripts were positive in 2/7 of ARMS patients, respectively, and were all negative in ERMS and Control tumors. There were different chromosome variations for each RMS, chromosome amplification was frequently seen in 1p36 (69%), 5q32 (56%), 8q21 (63%), 13q14 (69%), 19q (63%), 20q (56%). Chromosome loss was frequently seen in 3p21-pter (56%), 9p23-pter (50%), 10q (69%), 16/16q24 (56%).</p><p><b>CONCLUSION</b>One-step RT-PCR assay for detection specific fusion gene provides a useful tool for confirmation of the diagnosis of RMS in diagnostically difficult cases and in retrospective studies. Chimeric gene transcript resulting from specific chromosomal translocations is a reliable index for the molecular diagnosis of RMS.</p>
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Índice:
WPRIM
Assunto principal:
Rabdomiossarcoma
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Regulação Neoplásica da Expressão Gênica
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Proteínas de Fusão Oncogênica
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Aberrações Cromossômicas
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Reação em Cadeia da Polimerase Via Transcriptase Reversa
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Fator de Transcrição PAX7
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Fatores de Transcrição Box Pareados
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Fatores de Transcrição Forkhead
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Hibridização Genômica Comparativa
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Fator de Transcrição PAX3
Tipo de estudo:
Observational_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2007
Tipo de documento:
Article