Ontology type: schema:ScholarlyArticle Open Access: True
2017-11
AUTHORSNimesh R Patel, John S A Chrisinger, Elizabeth G Demicco, Stephen F Sarabia, Jacquelyn Reuther, Erica Kumar, Andre M Oliveira, Steven D Billings, Judith V M G Bovée, Angshumoy Roy, Alexander J Lazar, Dolores H Lopez-Terrada, Wei-Lien Wang
ABSTRACTNodular fasciitis is a self-limited myofibroblastic lesion that can be misdiagnosed as a sarcoma as a result of its rapid growth, cellularity, and sometimes prominent mitotic activity. A recurrent translocation t(17;22) has been identified in nodular fasciitis, fusing the coding region of USP6 to the promoter region of MYH9, and resulting in increased USP6 expression. A subset of cases show USP6 rearrangement without the typical fusion variants by RT-PCR, or any MYH9 rearrangement by FISH. We sought to further characterize such tumors using molecular diagnostic assays. A novel RT-PCR assay was designed to detect the two known MYH9-USP6 fusion types in formalin-fixed paraffin-embedded and frozen tissue, and a break-apart FISH assay was designed to detect USP6 rearrangement. Twenty-six cases of nodular fasciitis diagnosed between 2002 and 2013 were retrieved from the pathology files of our institutions and were confirmed to be positive by FISH and/or RT-PCR. Seven samples showed USP6 rearrangement by FISH but were negative for MYH9-USP6 fusion by RT-PCR; these cases were subjected to a next-generation sequencing assay utilizing anchored multiplex PCR technology. This assay targets a single partner gene associated with fusions in bone and soft tissue tumors for agnostic detection of gene fusion partners. Novel fusion partners were identified in all seven cases and confirmed by RT-PCR. Structurally, all fusions consisted of the juxtaposition of the entire coding region of USP6 with the promoter of the partner gene, driving increased USP6 expression. This study confirms the neoplastic nature of nodular fasciitis, defines additional pathogenic fusion partners, and adds to the growing body of literature on USP6-associated neoplasia. Given the diagnostic challenges of these tumors, molecular assays can be useful ancillary tools; however, the prevalence of promoter swapping must be recognized when interpreting results. More... »
PAGES1577-1588
http://scigraph.springernature.com/pub.10.1038/modpathol.2017.78
DOIhttp://dx.doi.org/10.1038/modpathol.2017.78
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1090916254
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/28752842
JSON-LD is the canonical representation for SciGraph data.
TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT
[
{
"@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json",
"about": [
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Genetics",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Biological Sciences",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Adolescent",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Adult",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Aged",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Child",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Fasciitis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Male",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Middle Aged",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Myofibroma",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Oncogene Fusion",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Oncogene Proteins, Fusion",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Promoter Regions, Genetic",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Proto-Oncogene Proteins",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Translocation, Genetic",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Ubiquitin Thiolesterase",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Young Adult",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Baylor College of Medicine",
"id": "https://www.grid.ac/institutes/grid.39382.33",
"name": [
"Department of Pathology, Texas Children's Hospital, Houston, TX, USA.",
"Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX, USA."
],
"type": "Organization"
},
"familyName": "Patel",
"givenName": "Nimesh R",
"id": "sg:person.0720246125.32",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0720246125.32"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "The University of Texas MD Anderson Cancer Center",
"id": "https://www.grid.ac/institutes/grid.240145.6",
"name": [
"Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA."
],
"type": "Organization"
},
"familyName": "Chrisinger",
"givenName": "John S A",
"id": "sg:person.010534707637.06",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010534707637.06"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "The University of Texas MD Anderson Cancer Center",
"id": "https://www.grid.ac/institutes/grid.240145.6",
"name": [
"Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA."
],
"type": "Organization"
},
"familyName": "Demicco",
"givenName": "Elizabeth G",
"id": "sg:person.0751521705.20",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0751521705.20"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Baylor College of Medicine",
"id": "https://www.grid.ac/institutes/grid.39382.33",
"name": [
"Department of Pathology, Texas Children's Hospital, Houston, TX, USA.",
"Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX, USA."
],
"type": "Organization"
},
"familyName": "Sarabia",
"givenName": "Stephen F",
"id": "sg:person.0743144317.03",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0743144317.03"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Baylor College of Medicine",
"id": "https://www.grid.ac/institutes/grid.39382.33",
"name": [
"Department of Pathology, Texas Children's Hospital, Houston, TX, USA.",
"Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX, USA."
],
"type": "Organization"
},
"familyName": "Reuther",
"givenName": "Jacquelyn",
"id": "sg:person.016466066107.29",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016466066107.29"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "The University of Texas MD Anderson Cancer Center",
"id": "https://www.grid.ac/institutes/grid.240145.6",
"name": [
"Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA."
],
"type": "Organization"
},
"familyName": "Kumar",
"givenName": "Erica",
"id": "sg:person.012210064161.14",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012210064161.14"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Mayo Clinic",
"id": "https://www.grid.ac/institutes/grid.66875.3a",
"name": [
"Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA."
],
"type": "Organization"
},
"familyName": "Oliveira",
"givenName": "Andre M",
"id": "sg:person.01336022204.52",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01336022204.52"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Cleveland Clinic",
"id": "https://www.grid.ac/institutes/grid.239578.2",
"name": [
"Department of Pathology, Cleveland Clinic, Cleveland, OH, USA."
],
"type": "Organization"
},
"familyName": "Billings",
"givenName": "Steven D",
"id": "sg:person.015531203757.22",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015531203757.22"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Leiden University Medical Center",
"id": "https://www.grid.ac/institutes/grid.10419.3d",
"name": [
"Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands."
],
"type": "Organization"
},
"familyName": "Bov\u00e9e",
"givenName": "Judith V M G",
"id": "sg:person.0675664562.78",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0675664562.78"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Baylor College of Medicine",
"id": "https://www.grid.ac/institutes/grid.39382.33",
"name": [
"Department of Pathology, Texas Children's Hospital, Houston, TX, USA.",
"Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX, USA."
],
"type": "Organization"
},
"familyName": "Roy",
"givenName": "Angshumoy",
"id": "sg:person.01032505657.11",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01032505657.11"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "The University of Texas MD Anderson Cancer Center",
"id": "https://www.grid.ac/institutes/grid.240145.6",
"name": [
"Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.",
"Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA."
],
"type": "Organization"
},
"familyName": "Lazar",
"givenName": "Alexander J",
"id": "sg:person.010255222337.53",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010255222337.53"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Baylor College of Medicine",
"id": "https://www.grid.ac/institutes/grid.39382.33",
"name": [
"Department of Pathology, Texas Children's Hospital, Houston, TX, USA.",
"Department of Pathology & Immunology, Baylor College of Medicine, Houston, TX, USA."
],
"type": "Organization"
},
"familyName": "Lopez-Terrada",
"givenName": "Dolores H",
"id": "sg:person.014633403267.66",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014633403267.66"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "The University of Texas MD Anderson Cancer Center",
"id": "https://www.grid.ac/institutes/grid.240145.6",
"name": [
"Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.",
"Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA."
],
"type": "Organization"
},
"familyName": "Wang",
"givenName": "Wei-Lien",
"id": "sg:person.010331373604.53",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010331373604.53"
],
"type": "Person"
}
],
"citation": [
{
"id": "https://doi.org/10.1093/ajcp/35.2.122",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1003677453"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/1097-0142(19820415)49:8<1668::aid-cncr2820490823>3.0.co;2-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004353411"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/onc.2010.116",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004728146",
"https://doi.org/10.1038/onc.2010.116"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/onc.2010.116",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004728146",
"https://doi.org/10.1038/onc.2010.116"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1128/mcb.24.22.9752-9762.2004",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005565335"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1128/mcb.24.22.9752-9762.2004",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005565335"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0002-9440(10)63432-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1007199230"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0002-9440(10)63432-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1007199230"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.humpath.2014.01.020",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008319173"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.humpath.2014.01.020",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008319173"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00428-011-1063-4",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008937190",
"https://doi.org/10.1007/s00428-011-1063-4"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1017/s0022215100095839",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1009477715"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0955-0674(00)00143-5",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1010139482"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1371/journal.pone.0106282",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1011704736"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1074/jbc.m505220200",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015060941"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1074/jbc.m505220200",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015060941"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1074/jbc.m505220200",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015060941"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/gcc.22366",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1016118701"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/gcc.22366",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1016118701"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nm.3729",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1016683041",
"https://doi.org/10.1038/nm.3729"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/bph.13653",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1018220604"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1158/1078-0432.ccr-13-1130",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1018425546"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/00000478-199110000-00004",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1019000868"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/00000478-199110000-00004",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1019000868"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/cncr.22099",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1019408213"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/modpathol.2009.85",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020925266",
"https://doi.org/10.1038/modpathol.2009.85"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/modpathol.2009.85",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020925266",
"https://doi.org/10.1038/modpathol.2009.85"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/mph.0b013e3181df6305",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022158283"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/mph.0b013e3181df6305",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022158283"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng0297-170",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022198651",
"https://doi.org/10.1038/ng0297-170"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0002-9440(10)63093-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022404471"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.anndiagpath.2015.03.013",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1023117766"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.1605691113",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024162263"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.1605691113",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024162263"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/sj.onc.1208506",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024165127",
"https://doi.org/10.1038/sj.onc.1208506"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/sj.onc.1208506",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024165127",
"https://doi.org/10.1038/sj.onc.1208506"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1371/journal.pone.0135958",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024705844"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/gcc.10232",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1025101965"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/his.13011",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1026828161"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/his.13011",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1026828161"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00428-013-1418-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027757011",
"https://doi.org/10.1007/s00428-013-1418-0"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00428-013-1418-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027757011",
"https://doi.org/10.1007/s00428-013-1418-0"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1242/jcs.156786",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1029459091"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1242/jcs.156786",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1029459091"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.matbio.2016.02.012",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1031423869"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00256-013-1620-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1031602483",
"https://doi.org/10.1007/s00256-013-1620-9"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.stem.2016.09.010",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032184509"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.stem.2016.09.010",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032184509"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0014-5793(99)01780-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032259999"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.humpath.2013.03.005",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032464062"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.humpath.2013.03.005",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032464062"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s10529-007-9475-6",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032547044",
"https://doi.org/10.1007/s10529-007-9475-6"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s10529-007-9475-6",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032547044",
"https://doi.org/10.1007/s10529-007-9475-6"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s10529-007-9475-6",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032547044",
"https://doi.org/10.1007/s10529-007-9475-6"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1128/mcb.23.6.2151-2161.2003",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032727705"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1128/mcb.23.6.2151-2161.2003",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032727705"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.jpedsurg.2009.01.047",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032872394"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/mph.0b013e318257a64b",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032952747"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/mph.0b013e318257a64b",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032952747"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/modpathol.2016.83",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1035798868",
"https://doi.org/10.1038/modpathol.2016.83"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/modpathol.2016.83",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1035798868",
"https://doi.org/10.1038/modpathol.2016.83"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/gcc.22432",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1037301178"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/gcc.22432",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1037301178"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1309/425h-nw4w-xc9a-005h",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1038254670"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.phrs.2015.05.001",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1038409262"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/onc.2011.520",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1038668184",
"https://doi.org/10.1038/onc.2011.520"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/onc.2011.520",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1038668184",
"https://doi.org/10.1038/onc.2011.520"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s10529-005-5523-2",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039110763",
"https://doi.org/10.1007/s10529-005-5523-2"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s10529-005-5523-2",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039110763",
"https://doi.org/10.1007/s10529-005-5523-2"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s10529-005-5523-2",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1039110763",
"https://doi.org/10.1007/s10529-005-5523-2"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1074/jbc.m110.175133",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040454125"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/ajcp/25.3.241",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041153446"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/his.12697",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041612446"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/scs.0b013e318176ac1a",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041989681"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/scs.0b013e318176ac1a",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041989681"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/scs.0b013e318176ac1a",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1041989681"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1158/0008-5472.can-03-2827",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1042579917"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1158/0008-5472.can-03-2827",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1042579917"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1158/0008-5472.can-06-4140",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043092977"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.2350/11-07-1064-oa.1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043103355"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.2350/11-07-1064-oa.1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043103355"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/jcp.2008.061630",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044668389"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/path.4836",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1045660017"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/srep24141",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1046031662",
"https://doi.org/10.1038/srep24141"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/1097-0142(196111/12)14:6<1216::aid-cncr2820140611>3.0.co;2-w",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047557725"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.bbrc.2005.07.159",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1048093175"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.bbrc.2005.07.159",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1048093175"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/j.bbrc.2005.07.159",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1048093175"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/cup.12828",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1048118512"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/cup.12828",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1048118512"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/labinvest.2011.118",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1050206813",
"https://doi.org/10.1038/labinvest.2011.118"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/labinvest.2011.118",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1050206813",
"https://doi.org/10.1038/labinvest.2011.118"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s12253-017-0200-z",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1054035550",
"https://doi.org/10.1007/s12253-017-0200-z"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s12253-017-0200-z",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1054035550",
"https://doi.org/10.1007/s12253-017-0200-z"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1158/0008-5472.can-15-2391",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1063215976"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1158/0008-5472.can-15-2391",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1063215976"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.2741/s271",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1070918373"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1043/1543-2165(2008)132[579:post]2.0.co;2",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1077627817"
],
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1077940976",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1078994351",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1078994351",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1079290586",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1079290586",
"type": "CreativeWork"
}
],
"datePublished": "2017-11",
"datePublishedReg": "2017-11-01",
"description": "Nodular fasciitis is a self-limited myofibroblastic lesion that can be misdiagnosed as a sarcoma as a result of its rapid growth, cellularity, and sometimes prominent mitotic activity. A recurrent translocation t(17;22) has been identified in nodular fasciitis, fusing the coding region of USP6 to the promoter region of MYH9, and resulting in increased USP6 expression. A subset of cases show USP6 rearrangement without the typical fusion variants by RT-PCR, or any MYH9 rearrangement by FISH. We sought to further characterize such tumors using molecular diagnostic assays. A novel RT-PCR assay was designed to detect the two known MYH9-USP6 fusion types in formalin-fixed paraffin-embedded and frozen tissue, and a break-apart FISH assay was designed to detect USP6 rearrangement. Twenty-six cases of nodular fasciitis diagnosed between 2002 and 2013 were retrieved from the pathology files of our institutions and were confirmed to be positive by FISH and/or RT-PCR. Seven samples showed USP6 rearrangement by FISH but were negative for MYH9-USP6 fusion by RT-PCR; these cases were subjected to a next-generation sequencing assay utilizing anchored multiplex PCR technology. This assay targets a single partner gene associated with fusions in bone and soft tissue tumors for agnostic detection of gene fusion partners. Novel fusion partners were identified in all seven cases and confirmed by RT-PCR. Structurally, all fusions consisted of the juxtaposition of the entire coding region of USP6 with the promoter of the partner gene, driving increased USP6 expression. This study confirms the neoplastic nature of nodular fasciitis, defines additional pathogenic fusion partners, and adds to the growing body of literature on USP6-associated neoplasia. Given the diagnostic challenges of these tumors, molecular assays can be useful ancillary tools; however, the prevalence of promoter swapping must be recognized when interpreting results.",
"genre": "research_article",
"id": "sg:pub.10.1038/modpathol.2017.78",
"inLanguage": [
"en"
],
"isAccessibleForFree": true,
"isPartOf": [
{
"id": "sg:journal.1098208",
"issn": [
"0893-3952",
"1530-0285"
],
"name": "Modern Pathology",
"type": "Periodical"
},
{
"issueNumber": "11",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "30"
}
],
"name": "USP6 activation in nodular fasciitis by promoter-swapping gene fusions",
"pagination": "1577-1588",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"e15f961c4f429759320cbc82e58efd4cb8e5c298f775693c984306ea52cfbd16"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"28752842"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"8806605"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/modpathol.2017.78"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1090916254"
]
}
],
"sameAs": [
"https://doi.org/10.1038/modpathol.2017.78",
"https://app.dimensions.ai/details/publication/pub.1090916254"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-11T13:59",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000371_0000000371/records_130823_00000005.jsonl",
"type": "ScholarlyArticle",
"url": "http://www.nature.com/modpathol/journal/v30/n11/full/modpathol201778a.html"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/modpathol.2017.78'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/modpathol.2017.78'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/modpathol.2017.78'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/modpathol.2017.78'
This table displays all metadata directly associated to this object as RDF triples.
442 TRIPLES
21 PREDICATES
111 URIs
38 LITERALS
26 BLANK NODES