{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T08:37:10Z","timestamp":1790671030038,"version":"4.1.0"},"reference-count":48,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2006,7,14]],"date-time":"2006-07-14T00:00:00Z","timestamp":1152835200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2006,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Chronic myeloproliferative disorders with rearrangements of the platelet\u2010derived growth factor receptor A (<jats:italic>PDGFRA<\/jats:italic>) gene at chromosome band 4q12 have shown excellent responses to targeted therapy with imatinib. Here we report a female patient who presented with advanced phase of a chronic eosinophilic leukemia. Cytogenetic analysis revealed an ins(9;4)(q33;q12q25) in 5 of 21 metaphases. FISH analysis with flanking BAC probes indicated that <jats:italic>PDGFRA<\/jats:italic> was disrupted. A novel mRNA in\u2010frame fusion between exon 13 of the CDK5 regulatory subunit associated protein 2 (<jats:italic>CDK5RAP2<\/jats:italic>) gene, a 40\u2010bp insert that was partially derived from an inverted sequence stretch of <jats:italic>PDGFRA<\/jats:italic> intron 9, and a truncated <jats:italic>PDGFRA<\/jats:italic> exon 12 was identified by 5\u2032\u2010RACE\u2010PCR. <jats:italic>CDK5RAP2<\/jats:italic> encodes a protein that is believed to be involved in centrosomal regulation. The predicted CDK5RAP2\u2010PDGFRA protein consists of 1,003 amino acids and retains both tyrosine kinase domains of PDGFRA and several potential dimerization domains of CDK5RAP2. Despite achieving complete cytogenetic and molecular remission on imatinib, the patient relapsed with imatinib\u2010resistant acute myeloid leukemia that was characterized by a normal karyotype, absence of detectable <jats:italic>CDK5RAP2\u2010PDGFRA<\/jats:italic> mRNA, and a newly acquired G12D <jats:italic>NRAS<\/jats:italic> mutation. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20359","type":"journal-article","created":{"date-parts":[[2006,7,14]],"date-time":"2006-07-14T16:16:56Z","timestamp":1152893816000},"page":"950-956","source":"Crossref","is-referenced-by-count":63,"title":["Transient response to imatinib in a chronic eosinophilic leukemia associated with ins(9;4)(q33;q12q25) and a <i>CDK5RAP2\u2010PDGFRA<\/i> fusion gene"],"prefix":"10.1002","volume":"45","author":[{"given":"Christoph","family":"Walz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Curtis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Schnittger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beate","family":"Schultheis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Metzgeroth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Schoch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Lengfelder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philipp","family":"Erben","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin C.","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Torsten","family":"Haferlach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hochhaus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00fcdiger","family":"Hehlmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas C. 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