{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T15:03:53Z","timestamp":1780758233212,"version":"3.54.1"},"reference-count":70,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"published-print":{"date-parts":[[2009,7]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Secretory breast cancer (SBC) is a rare entity characterised by indolent clinical behaviour, distinctive histological features and the presence of a recurrent chromosomal translocation t(12;15)(p13;q25), leading to the formation of the <jats:italic>ETV6\u2013NTRK3<\/jats:italic> fusion gene.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Aim:<\/jats:title>\n                  <jats:p>To describe the molecular genetic features of a case of SBC which harbours a duplication of the t(12;15) translocation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>Tiling path array comparative genomic hybridisation (aCGH) analysis and fluorescence in situ hybridisation (FISH) using in-house-generated probes for <jats:italic>ETV6<\/jats:italic>, <jats:italic>NTRK3<\/jats:italic> and the fusion genes, centromeric probes for chromosomes 12 and 15, and a commercially available split-apart <jats:italic>ETV6\/NTRK3<\/jats:italic> probe.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>FISH revealed the presence of a duplication of the translocation t(12;15), which resulted from the gain of one copy of the derivative chromosome der(15)t(12;15), retention of one normal copy of both <jats:italic>ETV6<\/jats:italic> and <jats:italic>NTRK3<\/jats:italic> genes and deletion of the derivative chromosome der(12)t(12;15). Consistent with FISH findings, aCGH revealed copy number gains of <jats:italic>ETV6<\/jats:italic> and <jats:italic>NTRK3<\/jats:italic> and deletions encompassing the regions centromeric to <jats:italic>ETV6<\/jats:italic> and telomeric to <jats:italic>NTRK3<\/jats:italic>. Additional regions of copy number changes included gains of 10q21, 10q26.3, 12p13.3\u2013p13.31 15q11\u2013q25.3 and 16pq and losses of 6q24.1\u2013q27, 12p13.2\u2013q12 and 15q25.3\u2013q26.3.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>To the best of our knowledge, this is the first time a carcinoma has been shown to harbour a duplication of the <jats:italic>ETV6\u2013NTRK3<\/jats:italic> translocation. The presence of an additional copy of the derivative chromosome der(15)t(12;15) coupled with deletion of the other derivative der(12)t(12;15) in the modal population of cancer cells suggests that this was either an early phenomenon or conferred additional growth advantage on neoplastic cells.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jcp.2008.059675","type":"journal-article","created":{"date-parts":[[2009,6,26]],"date-time":"2009-06-26T13:55:22Z","timestamp":1246024522000},"page":"604-612","source":"Crossref","is-referenced-by-count":47,"title":["Genomic profile of a secretory breast cancer with an <i>ETV6\u2013NTRK3<\/i> duplication"],"prefix":"10.1136","volume":"62","author":[{"given":"M B K","family":"Lambros","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D S P","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R L","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Vatcheva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Savage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Tamber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Fenwick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Mackay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Ashworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J S","family":"Reis-Filho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2009,6,26]]},"reference":[{"key":"2025092501454233000_62.7.604.1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1966.03100050096033"},{"key":"2025092501454233000_62.7.604.2","doi-asserted-by":"publisher","DOI":"10.1002\/dc.20157"},{"key":"2025092501454233000_62.7.604.3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1075-122X.2006.00233.x"},{"key":"2025092501454233000_62.7.604.4","doi-asserted-by":"crossref","first-page":"e50","DOI":"10.5858\/2006-130-e50-ALFBM","article-title":"A large, fungating breast mass. 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