FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2016554267> ?p ?o ?g. }

• W2016554267 endingPage "202" @default.
• W2016554267 startingPage "195" @default.
• W2016554267 abstract "USP6 rearrangement is the most common genetic abnormality in primary aneurysmal bone cyst, and SS18 rearrangement has not been previously described in any type of tumor where synovial sarcoma was excluded from the differential diagnosis. We report a case of solid aneurysmal bone cyst in which fluorescence in situ hybridization (FISH) analysis indicated rearrangements of both USP6 and SS18, but histologic features were consistent with aneurysmal bone cyst throughout the lesion. Reverse-transcription polymerase chain reaction (RT-PCR) for the SS18-SSX1 and SS18-SSX2 translocations, identity testing, and SS18 FISH were performed on cytogenetic monolayer cultures and formalin-fixed paraffin-embedded (FFPE) tissue. Genomic microarray, FISH, and immunohistochemistry were performed on follow-up studies of the FFPE specimen. The karyotype was 45,X,add(X)(p11.2),add(4)(q13),add(8)(p21),-13,add(17)(p11.2),add(18)(q11.2) in all 20 cells analyzed from monolayer cultures. The karyotype showed no cytogenetically visible alterations of chromosomal regions harboring known partners for USP6. Metaphase FISH with a commercial SS18 break-apart probe showed translocation of the 5' portion of the SS18 probe to the short arm of the derivative X, as is observed in synovial sarcoma. RT-PCR showed no evidence of a SS18-SSX fusion, and immunohistochemistry was negative for TLE1, EMA, and cytokeratin AE1/3 expression. FISH on FFPE sections with a custom break-apart probe flanking USP6 showed evidence for a USP6 rearrangement throughout the tumor (25-50%). FISH on FFPE sections with a commercial SS18 break-apart FISH probe showed more variable results (0-50% split signals). There was no evidence of a SS18-USP6 fusion by FISH or RT-PCR. A molecular inversion probe array revealed a deletion encompassing the entire SS18 gene and its promoter, as well as portions of the region targeted by the commercial SS18 FISH probe. In conclusion, results obtained from commercially available FISH probes may occasionally yield misleading results. In this case, the SS18 rearrangement by FISH resulted from a complex rearrangement of 18q11.2 with a deletion of the SS18 gene. The translocation partner for USP6 remains unknown in this case." @default.
• W2016554267 created "2016-06-24" @default.
• W2016554267 creator A5003907612 @default.
• W2016554267 creator A5007136104 @default.
• W2016554267 creator A5017521570 @default.
• W2016554267 creator A5028302740 @default.
• W2016554267 creator A5047713067 @default.
• W2016554267 creator A5052167357 @default.
• W2016554267 creator A5055040715 @default.
• W2016554267 date "2011-04-01" @default.
• W2016554267 modified "2023-10-05" @default.
• W2016554267 title "Unknown partner for USP6 and unusual SS18 rearrangement detected by fluorescence in situ hybridization in a solid aneurysmal bone cyst" @default.
• W2016554267 cites W1970319499 @default.
• W2016554267 cites W1972672918 @default.
• W2016554267 cites W2010507532 @default.
• W2016554267 cites W2018776754 @default.
• W2016554267 cites W2055372429 @default.
• W2016554267 cites W2058667312 @default.
• W2016554267 cites W2066136639 @default.
• W2016554267 cites W2074497895 @default.
• W2016554267 cites W2074631318 @default.
• W2016554267 cites W2082534286 @default.
• W2016554267 cites W2084198694 @default.
• W2016554267 cites W2087636717 @default.
• W2016554267 cites W2119606507 @default.
• W2016554267 cites W2120032026 @default.
• W2016554267 cites W2125243526 @default.
• W2016554267 cites W2130504182 @default.
• W2016554267 cites W2139301464 @default.
• W2016554267 cites W2140433041 @default.
• W2016554267 cites W2145954121 @default.
• W2016554267 cites W2171968355 @default.
• W2016554267 cites W4249547940 @default.
• W2016554267 cites W4254731759 @default.
• W2016554267 doi "https://doi.org/10.1016/j.cancergen.2011.01.004" @default.
• W2016554267 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21536237" @default.
• W2016554267 hasPublicationYear "2011" @default.
• W2016554267 type Work @default.
• W2016554267 sameAs 2016554267 @default.
• W2016554267 citedByCount "9" @default.
• W2016554267 countsByYear W20165542672012 @default.
• W2016554267 countsByYear W20165542672013 @default.
• W2016554267 countsByYear W20165542672014 @default.
• W2016554267 countsByYear W20165542672015 @default.
• W2016554267 countsByYear W20165542672017 @default.
• W2016554267 countsByYear W20165542672018 @default.
• W2016554267 crossrefType "journal-article" @default.
• W2016554267 hasAuthorship W2016554267A5003907612 @default.
• W2016554267 hasAuthorship W2016554267A5007136104 @default.
• W2016554267 hasAuthorship W2016554267A5017521570 @default.
• W2016554267 hasAuthorship W2016554267A5028302740 @default.
• W2016554267 hasAuthorship W2016554267A5047713067 @default.
• W2016554267 hasAuthorship W2016554267A5052167357 @default.
• W2016554267 hasAuthorship W2016554267A5055040715 @default.
• W2016554267 hasConcept C104317684 @default.
• W2016554267 hasConcept C138626823 @default.
• W2016554267 hasConcept C142724271 @default.
• W2016554267 hasConcept C153911025 @default.
• W2016554267 hasConcept C196166836 @default.
• W2016554267 hasConcept C203014093 @default.
• W2016554267 hasConcept C204232928 @default.
• W2016554267 hasConcept C2777194990 @default.
• W2016554267 hasConcept C2777542201 @default.
• W2016554267 hasConcept C2779012181 @default.
• W2016554267 hasConcept C2781156865 @default.
• W2016554267 hasConcept C2992511266 @default.
• W2016554267 hasConcept C30481170 @default.
• W2016554267 hasConcept C53226629 @default.
• W2016554267 hasConcept C54355233 @default.
• W2016554267 hasConcept C553184892 @default.
• W2016554267 hasConcept C71924100 @default.
• W2016554267 hasConcept C86803240 @default.
• W2016554267 hasConceptScore W2016554267C104317684 @default.
• W2016554267 hasConceptScore W2016554267C138626823 @default.
• W2016554267 hasConceptScore W2016554267C142724271 @default.
• W2016554267 hasConceptScore W2016554267C153911025 @default.
• W2016554267 hasConceptScore W2016554267C196166836 @default.
• W2016554267 hasConceptScore W2016554267C203014093 @default.
• W2016554267 hasConceptScore W2016554267C204232928 @default.
• W2016554267 hasConceptScore W2016554267C2777194990 @default.
• W2016554267 hasConceptScore W2016554267C2777542201 @default.
• W2016554267 hasConceptScore W2016554267C2779012181 @default.
• W2016554267 hasConceptScore W2016554267C2781156865 @default.
• W2016554267 hasConceptScore W2016554267C2992511266 @default.
• W2016554267 hasConceptScore W2016554267C30481170 @default.
• W2016554267 hasConceptScore W2016554267C53226629 @default.
• W2016554267 hasConceptScore W2016554267C54355233 @default.
• W2016554267 hasConceptScore W2016554267C553184892 @default.
• W2016554267 hasConceptScore W2016554267C71924100 @default.
• W2016554267 hasConceptScore W2016554267C86803240 @default.
• W2016554267 hasIssue "4" @default.
• W2016554267 hasLocation W20165542671 @default.
• W2016554267 hasLocation W20165542672 @default.
• W2016554267 hasOpenAccess W2016554267 @default.
• W2016554267 hasPrimaryLocation W20165542671 @default.
• W2016554267 hasRelatedWork W1992912014 @default.
• W2016554267 hasRelatedWork W2046779758 @default.
• W2016554267 hasRelatedWork W2056659962 @default.

• next