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PDGFRA binds USP8. 34 / 34
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"We report a case of a pediatric primary cardiac spindle cell neoplasm with a PDGFRA::USP8 gene fusion in the right ventricle, arising from the inlet part of the ventricular septum."
38401149
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"The other previous case of PDGFRA::USP8 gene fusion was described by The Cancer Genome Atlas (TCGA) database (TCGA-Z4-AAPG-01A). xref The tumor was an undifferentiated pleomorphic sarcoma in retroperitoneum of a 64 year old female."
38401149
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"The USP8::PDGFRA protein was predicted to be nuclear and function as a positive regulator of cellular metabolic process."
38670591
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"We report, for the first time, a calcified chondroid mesenchymal neoplasm carrying a balanced t(4;15)(q12;q21) chromosomal translocation, resulting in the generation of both PDGFRA::USP8 and USP8::PDGFRA chimeras."
38670591
sparser
"The PDGFRA::USP8 protein is located on the cell membrane and functions as a chimeric ubiquitinyl hydrolase, activated by PDGFs."
38670591
sparser
"Conversely, USP8::PDGFRA is a nuclear protein regulating metabolic processes."
38670591
sparser
"Following incidental identification of a tumor morphologically corresponding to calcified chondroid mesenchymal neoplasm, but with a PDGFRA::USP8 gene fusion, we undertook a retrospective review to identify and characterize additional such cases."
37642440
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"Targeted RNA sequencing revealed an identical PDGFRA (exon 22)::USP8 (exon 5) gene fusion in each case."
37642440
sparser
"In contrast to prior reports, these tumors harbored a novel PDGFRA::USP8 gene fusion, rather than FN1 rearrangement."
37642440
sparser
"Four CCMN had PDGFRA::USP8 fusions; 3 of which had histologic features of TGCT and were located in the hip, foot, and temporomandibular joint (TMJ)."
39016330
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"In this study, we analyzed 20 tumors with histology that would fit with that reported as "CCMN." With the combined use of RNA sequencing and fluorescence in situ hybridization, 15 tumors were found to have gene fusions, including FN1::FGFR2 (N=4), FN1::TEK (N=1), FN1::MERTK (N=1), PDGFRA::USP8 (N=2), FN1 rearrangements with undetermined non-FGFR2 partners (N=4), and PDGFRA rearrangements with undetermined partners (N=3)."
40139500
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"PDGFRA fusions are rare in soft tissue tumors; however, the PDGFRA::USP8 fusion has recently been described as a recurrent event in so‐called calcified chondroid mesenchymal neoplasms (CCMN) [ xref , xref ], an entity many consider to encompass chondroblastoma‐like chondroma, tophaceous pseudogout, and chondroid tenosynovial giant cell tumor (TSGCT) [ xref , xref ]."
39950323
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"Most CCMN cases are characterized by tyrosine kinase fusions involving the FN1 gene; however, at least nine cases with PDGFRA::USP8 fusion have been described to date [ xref , xref , xref ]."
39950323
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"Prompted by the identification of PDGFRA::USP8 fusion in an unrelated kinase fusion‐driven soft tissue neoplasm, we set out to re‐evaluate the oncogenic mechanism of this particular fusion as well as the neoplasms associated with it."
39950323
sparser
"In this case, we describe a rare cutaneous IMT with a PDGFRA::USP8 fusion."
39950323
sparser
"The PDGFRA::USP8 fusion described in this case has been found in several other soft tissue tumors; an overview is presented in Table  xref ."
39950323
sparser
"Of the nine CCMN described cases thus far with PDGFRA::USP8 fusions, five presented as a soft tissue chondroma, three as a chondroid TSGCT and one as tophaceous pseudogout [ xref , xref , xref ]."
39950323
sparser
"In the described PDGFRA::USP8 fusion, PDGFRA serves as the 5′ fusion partner instead of 3′, keeping the kinase domain (exons 13 till 21) intact, as the breakpoint is situated in exon 22 [ xref ]."
39950323
sparser
"In conclusion, we present a case of cutaneous IMT with PDGFRA::USP8 fusion, highlighting the wide anatomical distribution of IMT and genetic heterogeneity/pleiotropy of tyrosine kinase alterations in soft tissue tumors."
39950323
sparser
"We report a case of a primary cardiac spindle cell neoplasm with concerning histological features and a rare PDGFRA::USP8 gene fusion in a 3 year old boy."
38401149
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"Expanding the spectrum of tyrosine kinase fusions in calcified chondroid mesenchymal neoplasms: Identification of a novel PDGFRA::USP8 gene fusion."
37642440
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"PDGFRA::USP8 fusions have recently been described in neoplasms in the provisional category of calcified chondroid mesenchymal neoplasm (CCMN)."
39950323
sparser
"Herein, we review other soft tissue tumors with PDGFRA fusions, emphasizing PDGFRA::USP8 fusions, further highlighting the genetic pleiotropy of kinase gene fusions in soft tissue tumors."
39950323
sparser
"Here, we describe a case of cutaneous IMT with a PDGFRA::USP8 fusion."
39950323
sparser
"Pathology revealed an unclassified spindle cell neoplasm with a PDGFRA::USP8 gene fusion."
38401149
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"Important findings such as PDGFRA::USP8 gene fusion, necrosis, mitosis, and focal marked atypia were noted, and comment was made that a primary cardiac sarcoma could not be excluded."
38401149
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"In fact, PDGFRA::USP8 gene fusion was previously reported from a primary cardiac myxofibrosarcoma in a 5 year old boy."
38401149
sparser
"PDGFRA::USP8 gene fusion is very rare."
38401149
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"In this case, since the tumor appeared to be a rare tumor, we used the Illumina TruSight assay up front and discovered the PDGFRA::USP8 gene fusion."
38401149
sparser
"In summary, we report a case of pediatric primary cardiac unclassified spindle cell neoplasm with a very rare PDGFRA::USP8 gene fusion."
38401149
sparser
"To our knowledge, this is the first reported case of spindle cell neoplasm with PDGFRA::USP8 gene fusion arising from right cardiac ventricle."
38401149
biogrid
No evidence text available
35384245
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"RNA sequencing detected in-frame PDGFRA::USP8 and USP8::PDGFRA chimeric transcripts, which were validated by RT-PCR/Sanger sequencing."
38670591
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"The PDGFRA::USP8 chimeric protein is predicted to have cell membrane location and functions as a chimeric ubiquitinyl hydrolase."
38670591