2020
DOI: 10.1101/mcs.a005066
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Defining an embryonal rhabdomyosarcoma endotype

Abstract: Rhabdomyosarcoma (RMS) is the most common childhood soft-tissue sarcoma. The largest subtype of RMS is embryonal rhabdomyosarcoma (ERMS) and accounts for 53% of all RMS. ERMS typically occurs in the head and neck region, bladder, or reproductive organs and portends a promising prognosis when localized; however, when metastatic the 5-yr overall survival rate is ∼43%. The genomic landscape of ERMS demonstrates a range of putative driver mutations, and thus the recognition of the pathological mechanisms driving t… Show more

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Cited by 9 publications
(10 citation statements)
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“…Given the relative rarity of fusion-negative ARMS cases among the RMS clinical milieu, we investigated genomic similarities between the index case and other clinical RMS samples using a previously published hierarchical clustering dendrogram approach ( Supplemental Fig. 3 ; Ricker et al 2020 ). Similar to previous findings regarding genomic similarities between ERMS and fusion-negative ARMS ( Williamson et al 2010 ), CF-00449 clusters among ERMS samples, as do the majority of other fusion-negative ARMS samples.…”
Section: Resultsmentioning
confidence: 99%
See 1 more Smart Citation
“…Given the relative rarity of fusion-negative ARMS cases among the RMS clinical milieu, we investigated genomic similarities between the index case and other clinical RMS samples using a previously published hierarchical clustering dendrogram approach ( Supplemental Fig. 3 ; Ricker et al 2020 ). Similar to previous findings regarding genomic similarities between ERMS and fusion-negative ARMS ( Williamson et al 2010 ), CF-00449 clusters among ERMS samples, as do the majority of other fusion-negative ARMS samples.…”
Section: Resultsmentioning
confidence: 99%
“…The hierarchical clustering analysis approach was published previously ( Ricker et al 2020 ). Briefly, CF-00449 sequencing data was clustered among a cohort of RMS samples collected from multiple sources.…”
Section: Methodsmentioning
confidence: 99%
“…The lack of available RET -mutant aRMS cell models coupled with lack of patient-derived primary cultures at the time of our studies necessitated identifying cellular models genomically and transcriptionally similar to the index case for in vitro experiments. Similarity of cell models was quantified using an aRMS-focused dendrogram endotype computational model ( Ricker et al 2020 ). Multiple aRMS exome and transcriptomes sequencing data sets were obtained from internal cc-TDI CuRe-FAST samples, the Database of Genotypes and Phenotypes (dbGaP), the Gene Expression Omnibus (GEO) database, Foundation Medicine sequencing panels, the Jackson Laboratory PDX sequencing data, and Champions Oncology PDX sequencing data as well as statistical comparison of RET and RET signaling partner expression between ARMS and ERMS cohorts ( Supplemental Tables 1, 2 ).…”
Section: Resultsmentioning
confidence: 99%
“…Capturing comprehensive phenotypic data associated with a certain disease can be referred to as phenotyping (or phenomics ), which is the traditional and most common approach to classify diseases irrespective of the biological origins of disease. Utilizing datasets to define disease subtypes at the molecular level can be referred to as endotyping , as exemplified in respiratory medicine [ 16 , 17 ] or oncology [ 18 ]. The National Academy of Sciences of the USA campaigned for a new, molecularly-informed taxonomy to define diseases based on molecular endotypes rather than traditional clinical symptoms [ 19 ].…”
Section: Multi-omics Profilingmentioning
confidence: 99%