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Chromosomal imbalances revealed in primary rhabdomyosarcomas by comparative genomic hybridization 被引量:3

Chromosomal imbalances revealed in primary rhabdomyosarcomas by comparative genomic hybridization
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摘要 Background Previous cytogenetic studies revealed rhabdomyosarcoma. We profiled chromosomal imbalances aberrations varied among the three subtypes of n the different subtypes and investigated the relationships between clinical parameters and genomic aberrations. Methods Comparative genomic hybridization was used to investigate genomic imbalances in 25 cases of primary rhabdomyosarcomas and two rhabdomyosarcoma cell lines. Specimens were reviewed to determine histological type, pathological grading and clinical staging. Results Changes involving one or more regions of the genome were seen in all rhabdomyosarcomal patients. For rhabdomyosarcoma, DNA sequence gains were most frequently (〉30%) seen in chromosomes 2p, 12q, 6p, 9q, 10q, lp, 2q, 6q, 8q, 15q and 18q; losses from 3p, 11p and 6p. In aggressive alveolar rhabdomyosarcoma, frequent gains were seen on chromosomes 12q, 2p, 6p, 2q, 4q, 10q and 15q; losses from 3p, 6p, lq and 5q. For embryonic rhabdomyosarcoma, frequent gains were on 7p, 9q, 2p, 18q, lp and 8q; losses only from 11p. Frequently gained chromosome arms of translocation associated with rhabdomyosarcoma were 12q, 2, 6, 10q, 4q and 15q; losses from 3p, 6p and 5q. The frequently gained chromosome arms of nontranslocation associated with rhabdomyosarcoma were 2p, 9q and 18q, while 11p and 14q were the frequently lost chromosome arms. Gains on chromosome 12q were significantly correlated with translocation type. Gains on chromosome 9q were significantly correlated with clinical staging. Conclusions Gains on chromosomes 2p, 12q, 6p, 9q, 10q, lp, 2q, 6q, 8q, 15q and 18q and losses on chromosomes 3p, 11p and 6p may be related to rhabdomyosarcomal carcinogenesis. Furthermore, gains on chromosome 12q may be correlated with translocation and gains on chromosome 9q with the early stages of rhabdomyosarcoma. Background Previous cytogenetic studies revealed rhabdomyosarcoma. We profiled chromosomal imbalances aberrations varied among the three subtypes of n the different subtypes and investigated the relationships between clinical parameters and genomic aberrations. Methods Comparative genomic hybridization was used to investigate genomic imbalances in 25 cases of primary rhabdomyosarcomas and two rhabdomyosarcoma cell lines. Specimens were reviewed to determine histological type, pathological grading and clinical staging. Results Changes involving one or more regions of the genome were seen in all rhabdomyosarcomal patients. For rhabdomyosarcoma, DNA sequence gains were most frequently (〉30%) seen in chromosomes 2p, 12q, 6p, 9q, 10q, lp, 2q, 6q, 8q, 15q and 18q; losses from 3p, 11p and 6p. In aggressive alveolar rhabdomyosarcoma, frequent gains were seen on chromosomes 12q, 2p, 6p, 2q, 4q, 10q and 15q; losses from 3p, 6p, lq and 5q. For embryonic rhabdomyosarcoma, frequent gains were on 7p, 9q, 2p, 18q, lp and 8q; losses only from 11p. Frequently gained chromosome arms of translocation associated with rhabdomyosarcoma were 12q, 2, 6, 10q, 4q and 15q; losses from 3p, 6p and 5q. The frequently gained chromosome arms of nontranslocation associated with rhabdomyosarcoma were 2p, 9q and 18q, while 11p and 14q were the frequently lost chromosome arms. Gains on chromosome 12q were significantly correlated with translocation type. Gains on chromosome 9q were significantly correlated with clinical staging. Conclusions Gains on chromosomes 2p, 12q, 6p, 9q, 10q, lp, 2q, 6q, 8q, 15q and 18q and losses on chromosomes 3p, 11p and 6p may be related to rhabdomyosarcomal carcinogenesis. Furthermore, gains on chromosome 12q may be correlated with translocation and gains on chromosome 9q with the early stages of rhabdomyosarcoma.
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2009年第11期1277-1282,共6页 中华医学杂志(英文版)
基金 This research was supported by a grant from National Natural Science Foundation of China (No. 30560169).
关键词 RHABDOMYOSARCOMA fusion gene comparative genomic hybridization rhabdomyosarcoma fusion gene comparative genomic hybridization
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  • 1李锋,李新霞,常彬,庞丽娟,杨江华,胡文浩,陆天才,李洪安,王坚,陆红芬,孙孟红,施达仁.石蜡包埋软组织肉瘤中融合基因表达的检测及其诊断学价值[J].中华医学杂志,2004,84(18):1518-1522. 被引量:15
  • 2Landanyi M, Bridge JA. Contribution of molecular genetic data to the classification of sarcomas. Human Pathol,2000,31:532-538.
  • 3Pfeifer JD, Hill DA, O′Sullivan. et al. Diagnostic gold standard for soft tissue tumours: morphology or molecular genetics ? Histopathology, 2000,37:485-500.
  • 4Naito N,Kawai A, Ouchida M,et al. A reverse transcriptase-polymerase chain reaction assay in the diagnosis of soft tissue sarcomas. Cancer,2000 ,89:1992-1998.
  • 5Hill DA,O′Sullivan MJ,Zhu XP,et al. Practical application of molecular gentic testing as an aid to the surgical pathologic diagnosis of sarcomas a prospective study. Am J Surg Pathol,2002, 26:965-977.
  • 6Chang B , Yin BM, Li F, et al. Detective of PAX3/PAX7-FKHR fusion transcript in rhabdomyosarcoma by one-step RT-PCR. Natl Med J China, 2003,83:1336-1339.常彬,尹保民,李锋,等.一步法RT-PCR检测横纹肌肉瘤中PAX3/PAX7-FKHR融合
  • 7Tsuji S, Hisaoka M, Morimitsu Y, et al. Detection of SYT-SSX fusion transcripts in synovial sarcoma by reverse transcription-polymerase chain reaction using archival paraffin-embedded tissues. Am J Pathol ,1998, 153:1807-1812.
  • 8Sorensen PH, Lynch JC, Qualman SJ et al. PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children′s oncology group. J Clin Oncol ,2002, 20:2672-2679.
  • 9Hisaoka M, Tsuji S, Morimitsu Y,et al. Molecular detection of EWS-FLI1 chimeric transcripts in Ewing family tumors by nested reverse transcription-polymerase chain reaction:application to archival paraffin-embedded tumor tissues. APMIS,1999 ,107:577-584.
  • 10Wang J, Hisaoka M, Shimajiri S, et al.Detection of COL1A1-PDGFB fusion transcripts in dermatofibrosarcoma protuberans by reverse transcription-polymerase chain reaction using archival formalin-fixed, paraffin-embedded tissues. Diagn Mol Pathol,1999, 8:113

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  • 1高红,欧阳玲,张可仞,张志波,王维林.横纹肌肉瘤中融合基因PAX3/PAX7-FKHR表达和染色体遗传变异[J].中华医学遗传学杂志,2007,24(1):42-47. 被引量:3
  • 2Solinas-Toldo S,et al. Matrix-Based Comparative Genomic Hybrid- ization : Biochips to Screen for Genomic Imbalances[ J]. Gene chro- mosome cancer, 1997,20 : 399 - 407.
  • 3Pinkel D, Albertson D G. Array comparative genomic hybridization and its applications in cancer [ J]. Nat Genet ,2005,37 (1) :11- 17.
  • 4Conrad, D F, Pinto D, Redon R, et al. Origins and functional im- pact of copy number variation in the human genome [ J ]. Nature, 2010,464(7289) : 704 -712.
  • 5Albertson DG, Collins C, McCormick F, et al. Chromosome aberra- tions in solid tumors [J]. Nat Genet .2003.34:369 -376.
  • 6Engelman JA, Zejnullahu K, Mitsudomi T,et al. MET amplification leads to gefitinib resistance in lung cancer by activating ERBB3 signaling. [ J ]. Science,2007,316 : 1039 - 1043.
  • 7Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome [ J ]. Nature,2006,444:444 - 454.
  • 8Emanuel BS, Saitta SC. From microscopes to microarrays: dissec- ting recurrent chromosomal rearrangements [ J ]. Nat Rev Genet, 2007,8:869 - 883.
  • 9Simon A Joosse, Erik H van Beers, Petra M. Nederl of Automated an'ay-CGH optimized for archival formalin-fixed, parffin-embed- ded tumor material[ J ]. BMC Cancer,2007,7:43.
  • 10Peter J. Park Experimental Design and Data Analysis for Array Comparative Genomic Hybridization [ J ]. Cancer Investigation, 2008.26(9) : 923 -928.

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