{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T11:51:31Z","timestamp":1791373891492,"version":"4.3.1"},"reference-count":20,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:00:00Z","timestamp":1791331200000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100006673","name":"Fonds L\u00e9on Fredericq","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006673","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes & Cancer"],"published-print":{"date-parts":[[2026,10]]},"abstract":"ABSTRACT<\/jats:title>\n \n The molecular interpretation of eosinophilic neoplasms harboring\n t<\/jats:italic>\n (5;12) may be challenging because cytogenetic breakpoint assignments can suggest a\n PDGFRB<\/jats:italic>\n rearrangement without identifying the underlying fusion. We retrospectively investigated a woman with a chronic eosinophilic myeloid neoplasm initially investigated in 2002, in whom a subsequent\n t<\/jats:italic>\n (5;12)(q31\u2009~\u2009q33;p13) raised suspicion of\n PDGFRB<\/jats:italic>\n involvement. Contemporary molecular investigations failed to identify the rearrangement, and an empiric trial of imatinib produced no meaningful hematologic response. Seventeen years later, blast transformation was accompanied by persistence of\n t<\/jats:italic>\n (5;12) and acquisition of del(9)(q22). Fluorescence in\u00a0situ hybridization demonstrated\n ETV6<\/jats:italic>\n rearrangement but no\n PDGFRB<\/jats:italic>\n break\u2010apart pattern, indicating\n en bloc<\/jats:italic>\n translocation of the\n PDGFRB<\/jats:italic>\n locus. Targeted RNA sequencing of archived RNA extracted from cryopreserved peripheral blood cells collected in 2004 subsequently identified a strong\u2010evidence\n ETV6::ACSL6<\/jats:italic>\n fusion joining exon 2 of\n ETV6<\/jats:italic>\n to exon 2 of\n ACSL6<\/jats:italic>\n , supported by 1847 reads and 218 unique start sites. Targeted myeloid DNA sequencing detected no mutation within the regions analyzed. Identification of\n ETV6::ACSL6<\/jats:italic>\n shifted the biological interpretation away from presumed constitutive tyrosine kinase activation toward a proposed cytokine regulatory rewiring involving the 5q31 cytokine locus, consistent with published experimental evidence and the absence of response to imatinib. This case illustrates how contemporary RNA\u2010based fusion detection can resolve a historically uncharacterized structural rearrangement and refine biological interpretation and therapeutic expectations, while documenting an unusually prolonged natural history of an\n ETV6::ACSL6<\/jats:italic>\n \u2010associated eosinophilic myeloid neoplasm.\n <\/jats:p>","DOI":"10.1002\/gcc.70178","type":"journal-article","created":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T11:07:47Z","timestamp":1791371267000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Retrospective\n RNA<\/scp>\n Sequencing Reclassifies a Historical\n \n t<\/i>\n <\/scp>\n (5;12) Eosinophilic Neoplasm From Presumed\n \n PDGFRB<\/i>\n <\/scp>\n Rearrangement to\n \n ETV6::ACSL6<\/i>\n <\/scp>"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9423-9941","authenticated-orcid":false,"given":"Fr\u00e9d\u00e9ric","family":"Lambert","sequence":"first","affiliation":[{"name":"Center for Human Genetics and Department of Laboratory Medicine University Hospital of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael Fernandez","family":"Carazo","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Department of Laboratory Medicine University Hospital of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-1920-4828","authenticated-orcid":false,"given":"Benjamin","family":"Koopmansch","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Department of Laboratory Medicine University Hospital of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-8121-5122","authenticated-orcid":false,"given":"Elisa","family":"Dardenne","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Department of Laboratory Medicine University Hospital of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Sidon","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Cytogenetics Laboratory Free University of Brussels, LHUB\u2010ULB and Jules Bordet Institute Anderlecht Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ga\u00eblle","family":"Vertenoeil","sequence":"additional","affiliation":[{"name":"Department of Hematology University Hospital of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Heimann","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Hematology Laboratory, Free University of Brussels LHUB\u2010ULB and Jules Bordet Institute Anderlecht Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,7]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2023022417"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.27287"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.26966"},{"key":"e_1_2_11_5_1","volume-title":"NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines): Myeloid\/Lymphoid Neoplasms With Eosinophilia and Tyrosine Kinase Gene Fusions","author":"Gerds A. 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