2012
DOI: 10.1002/gcc.21953
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Genomic and clinical analysis of fusion gene amplification in rhabdomyosarcoma: A report from the Children's Oncology Group

Abstract: Alveolar rhabdomyosarcoma is an aggressive pediatric cancer of the myogenic lineage with frequent chromosomal translocations involving the PAX3 or PAX7 and FOXO1 genes. Based on previous studies indicating that the fusion genes are amplified in a subset of these cancers, we conducted a comprehensive molecular and clinical investigation of these amplification events. Using oligonucleotide arrays to localize amplicons, we found that the minimal 1p36 amplicon measured 0.13 Mb and only contained PAX7 whereas the m… Show more

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Cited by 60 publications
(62 citation statements)
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“…56 Further differences include the fact that PAX7-FOXO1 fusion gene is amplified in the majority of alveolar rhabdomyosarcomas, whereas the PAX3-FOXO1 is not. 57 Finally, the SYT1-SSX2 gene fusion in synovial sarcoma has been more strongly associated with monophasic spindle cell histology compared with the SYT1-SSX1 gene fusion, 58 although whether fusion status is an independent predictor of outcome is debated. 59,60 Although these examples highlight the potential for fusion subtype to impact patient care, they emphasize the need for prospective data to validate these distinctions.…”
Section: Discussionmentioning
confidence: 99%
“…56 Further differences include the fact that PAX7-FOXO1 fusion gene is amplified in the majority of alveolar rhabdomyosarcomas, whereas the PAX3-FOXO1 is not. 57 Finally, the SYT1-SSX2 gene fusion in synovial sarcoma has been more strongly associated with monophasic spindle cell histology compared with the SYT1-SSX1 gene fusion, 58 although whether fusion status is an independent predictor of outcome is debated. 59,60 Although these examples highlight the potential for fusion subtype to impact patient care, they emphasize the need for prospective data to validate these distinctions.…”
Section: Discussionmentioning
confidence: 99%
“…About 80% of aRMSs are characterized by a specific chromosomal translocation generating PAX3-FOXO1 or PAX7-FOXO1 fusion transcription factors (fusion-positive RMS [FP-RMS]) (3). It is now well accepted that fusion status drives unfavorable outcome in patients with RMS, especially for the PAX3-FOXO1 fusion (4)(5)(6)(7). Therefore fusion status has become a very important prognostic marker in the clinics.…”
Section: Introductionmentioning
confidence: 99%
“…Reports from the children's oncology group have shown that PAX7 fusion has a better outcome in patients with metastatic ARMS compared to PAX3 translocations [Sorensen et al, 2002]. In addition, the PAX7-FOXO1 fusion amplification is also associated with a better prognosis [Duan et al, 2012]. In our case, the patient survived for almost 6 years after the initial diagnosis of Stage III ARMS; however, this time period was not disease free and the patient did develop multiple relapses.…”
Section: Discussionmentioning
confidence: 53%
“…Even though a chromosomal translocation initiates a critical event in ARMS tumorigenesis, genome-wide studies have shown that there is also concurrent amplification of these fused genetic regions leading on to increased fusion oncoprotein expression driving tumorigenesis [Barr et al, 1996;Pandita et al, 1999; Bridge et al, 2002;Gordon et al, 2000]. Although this fusion gene amplification is more commonly encountered with PAX7 -FOXO1 than PAX3 -FOXO1 fusion ARMS tumors [Weber-Hall et al, 1996a;Duan et al, 2012], this phenomenon involving PAX7 and FOXO1 is clearly demonstrated in our case using CGH+SNP microarray analysis thereby confirming our case as fusion-positive ARMS.…”
Section: Discussionmentioning
confidence: 99%