{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T20:07:57Z","timestamp":1792181277330,"version":"4.4.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T00:00:00Z","timestamp":1722816000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T00:00:00Z","timestamp":1722816000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"University of the Witwatersrand"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Head and Neck Pathol"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p><jats:italic>ETV6<\/jats:italic> gene rearrangement is the molecular hallmark of secretory carcinoma (SC), however; the nature, frequency, and clinical implications of atypical <jats:italic>ETV6<\/jats:italic> signal patterns by fluorescence in situ hybridization (FISH) has not yet been systematically evaluated in salivary gland neoplasms.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>The clinical, histopathologic, immunohistochemical and molecular features of seven salivary SCs, including four cases with atypical <jats:italic>ETV6<\/jats:italic> FISH patterns, were retrospectively analyzed along with a critical appraisal of the literature on unbalanced <jats:italic>ETV6<\/jats:italic> break-apart in SCs.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The patients were four males and three females (31\u201370 years-old). Five presented with a painless neck mass and two patients with recurrent disease had a history of a previously diagnosed acinic cell carcinoma of the buccal mucosa. Histologically, there were varied combinations of microcystic, papillary, tubular, and solid patterns. All tumors were diffusely positive for S100 and\/or SOX10, while 2 cases also showed luminal DOG1 staining. Rearrangement of the <jats:italic>ETV6<\/jats:italic> locus was confirmed in 5\/7 cases, of which 3 cases showed classic break-apart signals, 1 case further demonstrated duplication of the <jats:italic>ETV6<\/jats:italic> 5`end and the other loss of one copy of <jats:italic>ETV6<\/jats:italic>. Two cases harbored <jats:italic>ETV6<\/jats:italic> deletion without rearrangement. Two of the 4 cases with atypical <jats:italic>ETV6<\/jats:italic> FISH patterns represented recurrent tumors, one with widespread skeletal muscle involvement, bone and lymphovascular invasion. Surgical treatment resulted in gross-total resection in all 7 cases, with a median follow up of 9.5 months post-surgery for primary (<jats:italic>n<\/jats:italic>\u2009=\u20093) and recurrent disease (<jats:italic>n<\/jats:italic>\u2009=\u20091).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Duplication of the distal\/telomeric <jats:italic>ETV6<\/jats:italic> probe represented the most common (26\/40; 65%) variant <jats:italic>ETV6<\/jats:italic> break-apart FISH pattern in salivary SC reported in the literature and appears indicative of an aggressive clinical course.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s12105-024-01673-y","type":"journal-article","created":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T13:02:51Z","timestamp":1722862971000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["ETV6 Molecular Heterogeneity in Salivary Secretory Carcinoma: A Case Series Report and Literature Review"],"prefix":"10.1007","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7834-5645","authenticated-orcid":false,"given":"Farzana","family":"Mahomed","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"de Bruin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sizakele","family":"Ngwenya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zinhle","family":"Masango","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Hodkinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,8,5]]},"reference":[{"key":"1673_CR1","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1097\/PAS.0b013e3181d9efcc","volume":"34","author":"A Sk\u00e1lov\u00e1","year":"2010","unstructured":"Sk\u00e1lov\u00e1 A, Vanecek T, Sima R, Laco J, Weinreb I, Perez-Ordonez B et al (2010) Mammary analogue secretory carcinoma of salivary glands, containing the ETV6-NTRK3 fusion gene: a hitherto undescribed salivary gland tumor entity. 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