IndraLab

Statements


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"Another author has looked specifically at cases with the t(16;17)(q22;p13) translocation and has characterized the fusion product of this event as CDH11-USP6 ."

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"The result of the CDH11USP6 chimeric gene is that USP6 is transcriptionally upregulated."

sparser
"A USP6 rearrangement is present in approximately 65% to 70% of ABC cases, with CDH11-USP6 fusion in 30%."

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"In a recent study, ubiquitin-specific protease 6 (USP6) gene rearrangement was found to be associated with 65–70% of cases, whereas CDH11-USP6 fusion was associated with 30% of cases [ xref ]."

sparser
"It is verified that the CDH11-USP6 fusion transcript is a specific transcript of ABC, the oncogenic property of which is closely linked with the upregulated transcription of USP6 [ 185 ]."

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"USP6 rearrangements exist in 65 to 70% of ABC cases and CDH11-USP6 fusion is present in an additional 30% of cases [ xref ]."

sparser
"The case reports, case series, and case studies of primary ABCs of the jaws after the year 2000, when the translocation of USP6-CDH11 was detected to date, were included in the review process."

sparser
"In our study, the most common CDH11::USP6 fusion in ABC was detected in two of seven (29%) cases; the remaining specimens harboured rearrangements with less common fusion partners xref xref and two novel fusion partners."

sparser
"Two showed typical CDH11::USP6 fusion."

sparser
"We observed 25 gene fusions, namely 9 SS18::SSX1 , 8 EWSR1::FLI1 , 3 PAX3::FOXO1 , 2 EWSR1::WT1 , 1 EWSR1::NR4A3 , 1 HEY1::NCOA2 , and 1 CDH11::USP6 ( xref )."

sparser
"The CDH11-USP6 translocation was found in 5 of 13 (38%) cases, while 7 novel fusion partners were identified in the other 8 cases, CTNNB1, E1F1, FOSL2, PAFAH1B1, RUNX2, SEC31A and STAT3, some of them [MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"

sparser
"Targeted RNA sequencing was performed and showed an USP6::CDH11 gene fusion, which is a highly specific and diagnostic gene fusion for ABC ( xref ) [ xref , xref ]."

sparser
"Furthermore, RT-PCR reactions corroborated these molecular cytogenetic results showing the presence of CDH11-USP6 fusion transcripts in these tumors."

sparser
"CDH11-USP6 fusion is one of the most frequently identified genetic abnormalities (30% of cases) and additional mutations continue to be described [ xref ]."

sparser
"CDH11-USP6 translocation is the most common, found in approximately one third of ABCs, while the frequency of other fusion partners is not known, due to the large number of fusion partners and small n[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"

sparser
"The disease was first reported by Jaffe and Lichtenstein in 1942. xref The understanding of ABC has gone through the process of reactive lesion, neoplastic lesion, primary lesion, and secondary lesion, until the advancement of molecular pathology confirmed the existence of characteristic chromosomal translocation t(16; 17) (q22; p13) in some tumour cells, resulting in the formation of the CDH11::USP6 fusion gene, supporting the neoplastic nature of the disease."

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"PCR primers for RT-PCR evaluation of the CDH11-USP6 fusion oncogene were CDH11 +71F (5′-CGCCGCTGACTTGTGAAT-3′) and USP6 +1781R (5′-CTCGGTGTCCCTTGTCATACTT-3′)."

sparser
"Of these, 10 cases (28%) exhibited rearrangement of both loci, and a fusion transcript CDH11-USP6 was confirmed by RT-PCR in each of these cases."

sparser
"CDH11-USP6 RT-PCR validations were performed in a representative group of the ABC with FISH rearrangements of USP6 only, CDH11 only, or neither USP6 or CDH11 , and each of these tumors lacked the CDH1[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"

sparser
"In these lesions, both the primary tumor component as well as the secondary ABC lacked CDH11 and USP6 rearrangements by FISH ( Figure 1, D and E ), and lacked CDH11-USP6 fusion transcripts by RT-PCR."

sparser
"However, recent tumor-genetics studies show that ∼70% of ABCs harbor chromosomal translocations, most commonly t (16;17)(q22;p13), generating a CDH11USP6 fusion that upregulates USP6 transcription ( xref , xref )."