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Typical recurrent chromosomal aberrations are found in the majority of TSCGT and the <jats:italic>CSF1<\/jats:italic> gene is frequently involved. In this article, we describe a newly identified gene fusion mediated by an inversion in a case of diffuse TSGCT. Multicolor\u2010fluorescence <jats:italic>in situ<\/jats:italic> hybridization (FISH) molecular karyotyping identified a pericentric inversion of chromosome 1 in 7 out of 17 analyzed cells 46,XX,inv(1)(p13.3q24.3) [7]\/46,XX [10], and with interphase FISH the involvement the <jats:italic>CSF1<\/jats:italic> locus was detected. After performing transcriptome sequencing analysis for fusion detection, only one out of five fusion gene algorithms detected a fusion involving the <jats:italic>CSF1<\/jats:italic> gene product. The resulting chimera fuses a sequence from a human endogenous retrovirus (HERV) gene to <jats:italic>CSF1<\/jats:italic> Exon 6 on chromosome 1, abrogating the regulatory element of the 3\u2032 untranslated region of the <jats:italic>CSF1<\/jats:italic> gene. This new translocation involving Exon 6 of the <jats:italic>CSF1<\/jats:italic> gene fused to 1q24.1, supports the hypothesis that a mutated CSF1 protein is likely to play a vital role in the pathogenesis of TSGCT. The role of the HERV partner identified as a translocation partner, however, remains unclear. Our data add to the complexity of involved translocation partners in TSGCT and point to the potential difficulty of identifying fusion partners in tumor diagnostics using transcriptome sequencing when HERV or other repeat elements are involved.<\/jats:p>","DOI":"10.1002\/gcc.23116","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T11:39:29Z","timestamp":1670845169000},"page":"223-230","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A novel colony\u2010stimulating factor 1 (CSF1) translocation \u00a0involving human endogenous retroviral element in a tenosynovial giant cell tumor"],"prefix":"10.1002","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5400-1138","authenticated-orcid":false,"given":"Astrid","family":"Lipplaa","sequence":"first","affiliation":[{"name":"Department of Medical Oncology Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6399-3084","authenticated-orcid":false,"given":"Debora","family":"Meijer","sequence":"additional","affiliation":[{"name":"Department of Pathology Leiden University Medical Center  Leiden The Netherlands"},{"name":"Leiden Center for Computational Oncology  Leiden The Netherlands"},{"name":"Department of Cell and Chemical Biology Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9156-7656","authenticated-orcid":false,"given":"Michiel A. 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