{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T13:33:22Z","timestamp":1762522402711,"version":"3.41.2"},"reference-count":26,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,12,30]],"date-time":"2019-12-30T00:00:00Z","timestamp":1577664000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hematopoietic neoplasms with chromosomal translocations involving <jats:italic>JAK2<\/jats:italic> are rare, and most of them show myeloproliferative neoplasm\u2010associated features, followed by B\u2010acute lymphoblastic leukemia (B\u2010ALL). De novo B\u2010ALL cases with <jats:italic>JAK2<\/jats:italic> rearrangements are suggested to be appropriately considered as <jats:italic>BCR\u2010ABL1<\/jats:italic>\u2010like B\u2010ALL, but its partners varied.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Fluorescence in situ hybridization (FISH), RNA sequencing (RNA\u2010Seq), whole\u2010genome sequencing, and reverse transcription polymerase chain reaction (RT\u2010PCR) were performed to identify the pathogenic fusion gene in a 29\u2010year\u2010old woman with relapsed B\u2010ALL and rare t(1;9)(p13;p22) translocation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified <jats:italic>RNPC3<\/jats:italic> as a new <jats:italic>JAK2<\/jats:italic> fusion partner in the patient. She was treated with a combination of chemotherapy and targeted drug ruxolitinib and chimeric antigen receptor T\u2010cell therapy, but failed to achieve complete remission. She had no chance to undergo allogeneic hematopoietic stem cell transplantation and died of disease progression 7\u00a0months after the initial diagnosis. Her clinical course demonstrated that this novel <jats:italic>RNPC3\u2010JAK2<\/jats:italic> fusion might portend an unfavorable prognosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This finding adds to the expanding compendium of <jats:italic>JAK2<\/jats:italic> fusions found in B\u2010ALL and suggests the potential need for a diagnostic FISH analysis as well as RNA\u2010Seq in the appropriate clinical setting.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1110","type":"journal-article","created":{"date-parts":[[2019,12,30]],"date-time":"2019-12-30T09:22:40Z","timestamp":1577697760000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Identification of <i>RNPC3<\/i> as a novel <i>JAK2<\/i> fusion partner gene in B\u2010acute lymphoblastic leukemia refractory to combination therapy including ruxolitinib"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1282-3405","authenticated-orcid":false,"given":"Xue","family":"Chen","sequence":"first","affiliation":[{"name":"Divison of Pathology &amp; Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Wang","sequence":"additional","affiliation":[{"name":"Divison of Pathology &amp; Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Divison of Pathology &amp; Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoli","family":"Ma","sequence":"additional","affiliation":[{"name":"Divison of Pathology &amp; Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingyue","family":"Liu","sequence":"additional","affiliation":[{"name":"Divison of Pathology &amp; Laboratory Medicine Hebei Yanda Lu Daopei Hospital Langfang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Panxiang","family":"Cao","sequence":"additional","affiliation":[{"name":"Divison of Pathology &amp; 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