{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:34:05Z","timestamp":1760150045068,"version":"build-2065373602"},"reference-count":33,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T00:00:00Z","timestamp":1695427200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>ETV6::ABL1 gene fusion is a rare recurrent genomic rearrangement associated with hematologic malignancies, and frequently occurs with additional anomalies. Due to the opposite chromosome orientations of the ETV6 and ABL1 genes, an oncogenic in-frame ETV6::ABL1 gene fusion cannot be formed by a simple translocation. The molecular mechanism of the ETV6::ABL1 fusion and the significance of co-occurring anomalies are not fully understood. We characterized genomic alterations in an individual with ETV6::ABL1 gene-fusion-positive myeloid neoplasm using various genomic technologies. Our findings uncovered a molecular mechanism of the ETV6::ABL1 fusion, in which a paracentric inversion within the short arm of chromosome 12 (12p) and a translocation between the long arm of a chromosome 9 and the 12p with the inversion were involved. In addition, we detected multiple additional anomalies in the individual, and our findings suggested that the ETV6::ABL1 fusion occurred as a secondary event in a subset of cells with the additional anomalies. We speculate that the additional anomalies may predispose to further pathogenic changes, including ETV6::ABL1 fusion, leading to neoplastic transformation.<\/jats:p>","DOI":"10.3390\/genes14101851","type":"journal-article","created":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T10:40:22Z","timestamp":1695552022000},"page":"1851","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Complex Genomic Rearrangements Involving ETV6::ABL1 Gene Fusion in an Individual with Myeloid Neoplasm"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7190-6457","authenticated-orcid":false,"given":"Zhongxia","family":"Qi","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, University of California San Francisco, San Francisco, CA 94107, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0160-7026","authenticated-orcid":false,"given":"Catherine","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of California San Francisco, San Francisco, CA 94143, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neil P.","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of California San Francisco, San Francisco, CA 94143, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingwei","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, University of California San Francisco, San Francisco, CA 94107, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/(SICI)1098-2264(199711)20:3<299::AID-GCC11>3.0.CO;2-K","article-title":"BCR\/ABL-negative chronic myeloid leukemia with ETV6\/ABL fusion","volume":"20","author":"Andreasson","year":"1997","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_2","first-page":"789","article-title":"Clonal eosinophils are a morphologic hallmark of ETV6\/ABL1 positive acute myeloid leukemia","volume":"87","author":"Trubia","year":"2002","journal-title":"Haematologica"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1007\/s12185-017-2371-5","article-title":"ETV6-ABL1 fusion combined with monosomy 7 in childhood B-precursor acute lymphoblastic leukemia","volume":"107","author":"Uemura","year":"2018","journal-title":"Int. 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