{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T08:56:05Z","timestamp":1788857765794,"version":"build-2803163510"},"reference-count":48,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,9,12]],"date-time":"2019-09-12T00:00:00Z","timestamp":1568246400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000015","name":"Canadian Cancer Society Research Institute","doi-asserted-by":"publisher","award":["705615"],"award-info":[{"award-number":["705615"]}],"id":[{"id":"10.13039\/501100000015","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Tenosynovial giant cell tumors (TGCTs) are characterized by rearrangements of\n                    <jats:italic>CSF1<\/jats:italic>\n                    , thought to drive overexpression of macrophage colony\u2010stimulating factor (CSF1), thereby promoting tumor growth and recruitment of non\u2010neoplastic mononuclear and multinucleated inflammatory cells. While fusions to collagen promoters have been described, the mechanism of\n                    <jats:italic>CSF1<\/jats:italic>\n                    overexpression has been unclear in a majority of cases. Two cohorts of TGCT were investigated for\n                    <jats:italic>CSF1<\/jats:italic>\n                    rearrangements using fluorescence in situ hybridization (FISH) and either RNA\u2010seq or DNA\u2010seq with Sanger validation. The study comprised 39 patients, including 13 localized TGCT, 21 diffuse TGCT, and five of unspecified type.\n                    <jats:italic>CSF1<\/jats:italic>\n                    rearrangements were identified by FISH in 30 cases: 13 translocations, 17 3\u2032 deletions. Sequencing confirmed\n                    <jats:italic>CSF1<\/jats:italic>\n                    breakpoints in 28 cases; in all 28 the breakpoint was found to be downstream of exon 5, replacing or deleting a long 3\u2032 UTR containing known miRNA and AU\u2010rich element negative regulatory sequences. We also confirmed the presence of\n                    <jats:italic>CBL<\/jats:italic>\n                    exon 8\u20109 mutations in six of 21 cases. In conclusion, TGCT in our large cohort were characterized by variable alterations, all of which led to truncation of the 3\u2032 end of\n                    <jats:italic>CSF1<\/jats:italic>\n                    , instead of the\n                    <jats:italic>COL6A3\u2010CSF1<\/jats:italic>\n                    fusions previously reported in some TGCTs. The diversity of fusion partners but consistent integrity of\n                    <jats:italic>CSF1<\/jats:italic>\n                    functional domains encoded by exons 1\u20105 support a hypothesis that CSF1 overexpression results from transcription of a truncated form of\n                    <jats:italic>CSF1<\/jats:italic>\n                    lacking 3\u2032 negative regulatory sequences. The presence of\n                    <jats:italic>CBL<\/jats:italic>\n                    mutations affecting the linker and RING finger domain suggests an alternative mechanism for increased CSF1\/CSF1R signaling in some cases.\n                  <\/jats:p>","DOI":"10.1002\/gcc.22807","type":"journal-article","created":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T11:34:41Z","timestamp":1567164881000},"page":"96-105","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":52,"title":["Detection of\n                    <i>CSF1<\/i>\n                    rearrangements deleting the 3\u2032 UTR in tenosynovial giant cell tumors"],"prefix":"10.1002","volume":"59","author":[{"given":"Julie","family":"Ho","sequence":"first","affiliation":[{"name":"Genetic Pathology Evaluation Centre, University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Peters","sequence":"additional","affiliation":[{"name":"Novartis Institute for Biomedical Research  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2269-6216","authenticated-orcid":false,"given":"Brendan C.","family":"Dickson","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Mount Sinai Hospital  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Swanson","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Mount Sinai Hospital  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Fernandez","sequence":"additional","affiliation":[{"name":"Novartis Institute for Biomedical Research  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurelie","family":"Frova\u2010Seguin","sequence":"additional","affiliation":[{"name":"Novartis Institute for Biomedical Research  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Anne","family":"Valentin","sequence":"additional","affiliation":[{"name":"Novartis Institute for Biomedical Research  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ursula","family":"Schramm","sequence":"additional","affiliation":[{"name":"Novartis Institute for Biomedical Research  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Sultan","sequence":"additional","affiliation":[{"name":"Novartis Institute for Biomedical Research  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Torsten O.","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Genetic Pathology Evaluation Centre, University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4144-8824","authenticated-orcid":false,"given":"Elizabeth G.","family":"Demicco","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Mount Sinai Hospital  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,9,12]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"100","volume-title":"WHO Classificationn of Tumours of Soft Tissue and Bone","author":"Somerhausen N","year":"2013"},{"key":"e_1_2_8_3_1","first-page":"102","volume-title":"WHO Classification of Tumours of Soft Tissue and Bone","author":"Somerhausen N","year":"2013"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.2870060404"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0046-8177(94)90154-6"},{"issue":"15","key":"e_1_2_8_6_1","first-page":"3986","article-title":"Cytogenetic characterization of tenosynovial giant cell tumors (nodular tenosynovitis)","volume":"54","author":"Dal Cin P","year":"1994","journal-title":"Cancer Res"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00428-002-0640-y"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0507321103"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.26409"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(15)00132-1"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1411366"},{"key":"e_1_2_8_12_1","unstructured":"ChengEC KudlidjianA BlockJA et al. MCS110 an anti\u2010CSF\u20101 antibody for the treatment of pigmented villonodular synovitis (PVNS). 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