{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T06:05:18Z","timestamp":1788847518352,"version":"build-2803163510"},"reference-count":21,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,6,21]],"date-time":"2023-06-21T00:00:00Z","timestamp":1687305600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Garron Family Cancer Centre at the Hospital for Sick Children"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Current Oncology"],"abstract":"<jats:p>ETV6-ABL1 gene fusion is a rare genetic rearrangement in a variety of malignancies, including myeloproliferative neoplasms (MPN), acute lymphoblastic leukemia (ALL), and acute myeloid leukemia (AML). Here, we report the case of a 16-year-old male diagnosed with a MPN, 7 months post-completion of treatment for Burkitt leukaemia. RNA sequencing analysis confirmed the presence of an ETV6-ABL1 fusion transcript, with an intact, in-frame ABL tyrosine\u2013kinase domain. Of note, secondary ETV6-ABL1-rearranged neoplastic diseases have not been reported to date. The patient was started on a tyrosine kinase inhibitor (TKI; imatinib) and, subsequently, underwent a 10\/10 matched unrelated haematopoietic stem cell transplant. He is disease-free five years post-transplant. Definitive evidence of the prognostic influence of the ETV6-ABL1 fusion in haematological neoplasms is lacking; however, overall data suggest that it is a poor prognostic factor, particularly in patients with ALL and AML. The presence of this ETV6-ABL1 fusion should be more routinely investigated, especially in patients with a CML-like picture. More routine use of whole-genome and RNA sequencing analyses in clinical diagnostic care, in conjunction with conventional cytogenetics, will facilitate these investigations.<\/jats:p>","DOI":"10.3390\/curroncol30070444","type":"journal-article","created":{"date-parts":[[2023,6,21]],"date-time":"2023-06-21T03:18:38Z","timestamp":1687317518000},"page":"5946-5952","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia"],"prefix":"10.3390","volume":"30","author":[{"given":"Samuele","family":"Renzi","sequence":"first","affiliation":[{"name":"Division of Haematology\/Oncology, The Hospital for Sick Children, Toronto, ON M4B 1B3, Canada"},{"name":"Department of Pediatrics, Division of Pediatric Hematology\/Oncology, CHUL-Laval, Laval University, Quebec City, QC G1V 4G2, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatimah","family":"Algawahmed","sequence":"additional","affiliation":[{"name":"Laboratory Medicine Program, University Health Network, Toronto, ON M5G 2M9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Davidson","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada"},{"name":"Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin P. S.","family":"Langenberg","sequence":"additional","affiliation":[{"name":"Princess M\u00e1xima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Fuligni","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3705-4064","authenticated-orcid":false,"given":"Salah","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Pediatric Haematology and Bone Marrow Transplant, Leeds Teaching Hospitals, Leeds LS9 7TF, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathaniel","family":"Anderson","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ledia","family":"Brunga","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1573-2506","authenticated-orcid":false,"given":"Jack","family":"Bartram","sequence":"additional","affiliation":[{"name":"Department of Hematology, Great Ormond Street Hospital, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Abdelhaleem","sequence":"additional","affiliation":[{"name":"Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Naqvi","sequence":"additional","affiliation":[{"name":"Division of Haematology\/Oncology, The Hospital for Sick Children, Toronto, ON M4B 1B3, Canada"},{"name":"Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kassa","family":"Beimnet","sequence":"additional","affiliation":[{"name":"Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre","family":"Schuh","sequence":"additional","affiliation":[{"name":"Department of Haematology, Princess Margaret Hospital, Toronto, ON M5G 2C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Tierens","sequence":"additional","affiliation":[{"name":"Laboratory Medicine Program, University Health Network, Toronto, ON M5G 2M9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Malkin","sequence":"additional","affiliation":[{"name":"Division of Haematology\/Oncology, The Hospital for Sick Children, Toronto, ON M4B 1B3, Canada"},{"name":"Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Shlien","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada"},{"name":"Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Shago","sequence":"additional","affiliation":[{"name":"Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada"},{"name":"Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Villani","sequence":"additional","affiliation":[{"name":"Division of Haematology\/Oncology, The Hospital for Sick Children, Toronto, ON M4B 1B3, Canada"},{"name":"Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.3324\/haematol.2016.144345","article-title":"Characterization of leukemias with ETV6-ABL1 fusion","volume":"101","author":"Zaliova","year":"2016","journal-title":"Haematologica"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"475","DOI":"10.3343\/alm.2014.34.6.475","article-title":"A cryptic ETV6\/ABL1 rearrangement represents a unique fluorescence in situ hybridization signal pattern in a patient with B acute lymphoblastic leukemia","volume":"34","author":"Song","year":"2014","journal-title":"Ann. 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