{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T19:58:49Z","timestamp":1791575929643,"version":"4.3.4"},"reference-count":51,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,9,4]],"date-time":"2013-09-04T00:00:00Z","timestamp":1378252800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:p>Endometrial stromal sarcomas (ESSs) are a genetically heterogeneous group of rare uterine neoplasms that are commonly driven by recurrent gene rearrangements. In conventional low\u2010grade ESS, <jats:italic>JAZF1\u2010SUZ12<\/jats:italic>, <jats:italic>PHF1\u2010JAZF1<\/jats:italic>, <jats:italic>EPC1\u2010PHF1<\/jats:italic> and <jats:italic>MEAF6\u2010PHF1<\/jats:italic>, and recently described <jats:italic>ZC3H7<\/jats:italic>\u2010<jats:italic>BCOR<\/jats:italic> chimeric fusions have been reported in &gt; 50% of cases. Conversely, oncogenic t(10;17)(q22;p13) translocation yields YWHAE\u2010FAM22A\/B chimeric proteins that are associated with histologically high\u2010grade and clinically more aggressive ESS. Integrating whole\u2010transcriptome paired\u2010end RNA sequencing with fluorescence <jats:italic>in situ<\/jats:italic> hybridization (FISH) and banding cytogenetics, we identified <jats:italic>MBTD1<\/jats:italic> (malignant brain tumor domain\u2010containing 1) and <jats:italic>CXorf67<\/jats:italic> (chromosome X open reading frame 67) as the genes involved in the novel reciprocal t(X;17)(p11.2;q21.33) translocation in two independent low\u2010grade ESS of classical histology. The presence of the <jats:italic>MBTD1\u2010CXorf67<\/jats:italic> fusion transcript was validated in both cases using reverse\u2010transcription polymerase chain reaction followed by Sanger sequencing. A specific FISH assay was developed to detect the novel t(X;17) translocation in formalin\u2010fixed paraffin\u2010embedded material, and resulted in identification of an additional low\u2010grade ESS case positive for the <jats:italic>MBTD1\u2010CXorf67<\/jats:italic> fusion among 25 uterine stromal tumors [14 ESS and 11 undifferentiated endometrial sarcomas (UESs)] that were negative for <jats:italic>JAZF1<\/jats:italic> and <jats:italic>YWHAE<\/jats:italic> rearrangements. Gene expression profiles of seven ESS (including three with <jats:italic>YWHAE<\/jats:italic> and two with <jats:italic>JAZF1<\/jats:italic> rearrangements) and four UES without specific chromosomal aberrations indicated clustering of tumors with <jats:italic>MBTD1\u2010CXorf67<\/jats:italic> fusion together with low\u2010grade <jats:italic>JAZF1<\/jats:italic>\u2010associated ESS. The chimeric <jats:italic>MBTD1\u2010CXorf67<\/jats:italic> fusion identifies yet another cytogenetically distinct subgroup of low\u2010grade ESS and offers the opportunity to shed light on the functions of two poorly characterized genes.<\/jats:p>","DOI":"10.1002\/ijc.28440","type":"journal-article","created":{"date-parts":[[2013,8,19]],"date-time":"2013-08-19T14:52:38Z","timestamp":1376923958000},"page":"1112-1122","source":"Crossref","is-referenced-by-count":134,"title":["Identification of a novel, recurrent <i>MBTD1\u2010CXorf67<\/i> fusion in low\u2010grade endometrial stromal sarcoma"],"prefix":"10.1002","volume":"134","author":[{"given":"Barbara","family":"Dewaele","sequence":"first","affiliation":[{"name":"Department of Human Genetics KU Leuven and University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Przybyl","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven and University Hospitals Leuven Leuven Belgium"},{"name":"Department of Molecular and Translational Oncology The Maria Sklodowska\u2010Curie Memorial Cancer Centre and Institute of Oncology Warsaw Poland"},{"name":"Postgraduate School of Molecular Medicine Warsaw Medical University Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Quattrone","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven and University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julio","family":"Finalet Ferreiro","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven and University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Vanspauwen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven and University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Geerdens","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven and Flanders Interuniversity Institute for Biotechnology (VIB) Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Gianfelici","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven and Flanders Interuniversity Institute for Biotechnology (VIB) Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep","family":"Kalender","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven and Flanders Interuniversity Institute for Biotechnology (VIB) Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Wozniak","sequence":"additional","affiliation":[{"name":"Laboratory of Experimental Oncology Department of Oncology KU Leuven and Department of General Medical Oncology University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Moerman","sequence":"additional","affiliation":[{"name":"Department of Pathology KU Leuven and University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raf","family":"Sciot","sequence":"additional","affiliation":[{"name":"Department of Pathology KU Leuven and University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Croce","sequence":"additional","affiliation":[{"name":"Department of Pathology Institute Bergoni\u00e9 Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Amant","sequence":"additional","affiliation":[{"name":"Department of Oncology KU Leuven and Leuven Cancer Institute University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Vandenberghe","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven and University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Cools","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven and Flanders Interuniversity Institute for Biotechnology (VIB) Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Debiec\u2010Rychter","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven and University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,9,4]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"432","volume-title":"Pathology and genetics of tumours of the breast and female genital organs","author":"Tavassoli FA","year":"2003"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.101132598"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/his.12048"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-05-2485"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0039354"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e3182262743"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e318272c612"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22057"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(09)70226-8"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1115528109"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31825fa931"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0090-8258(02)00096-3"},{"key":"e_1_2_6_14_1","first-page":"140","article-title":"An international system for human cytogenetic nomenclature","author":"Shaffer LG","year":"2013","journal-title":"Basel: Karger"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-10-1543"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts294"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1001138"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-0774.2008.00050.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.3780461"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0007274"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genet-110711-155603"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.24224"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09784"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2010.08.002"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.186411.111"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.107375"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1076997"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/embo-reports\/kve210"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1035902"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(02)00976-5"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkn146"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.377406"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2008.10.005"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2763"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2009.09.010"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M300592200"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.embor.7401085"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2008.67"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.03.048"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4773(95)00431-9"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2007.06.025"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.10.043"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.476008"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2490-12-5"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2005.06.008"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.89"},{"key":"e_1_2_6_47_1","unstructured":"GudmundssonJ SulemP.Genetic variants contributing to risk of prostate cancer. EP2522743A2.2012."},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0905980"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.91"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0709986104"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-200204000-00001"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1524107"}],"container-title":["International Journal of Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fijc.28440","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ijc.28440","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ijc.28440","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ijc.28440","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T04:13:46Z","timestamp":1693973626000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ijc.28440"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9,4]]},"references-count":51,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["10.1002\/ijc.28440"],"URL":"https:\/\/doi.org\/10.1002\/ijc.28440","archive":["Portico"],"relation":{},"ISSN":["0020-7136","1097-0215"],"issn-type":[{"value":"0020-7136","type":"print"},{"value":"1097-0215","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,9,4]]}}}