{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T08:07:48Z","timestamp":1761293268061},"reference-count":5,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,5,20]],"date-time":"2015-05-20T00:00:00Z","timestamp":1432080000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rare patients suffering from myeloid neoplasms share clinical and cytological features indistinguishable from chronic myeloid leukemia (CML) but lack the <jats:italic>BCR\u2010ABL1<\/jats:italic> fusion gene. Several studies provide evidence that alterations in genes encoding tyrosine kinase receptors such as the platelet\u2010derived growth factor receptor (<jats:italic>PDGFR<\/jats:italic>) may be involved in the pathogenesis of these disorders. Here we describe a patient with a rare CML\u2010like disease in whom we identified a novel in\u2010frame <jats:italic>BCR\u2010PDGFRA<\/jats:italic> rearrangement joining <jats:italic>BCR<\/jats:italic> exon 17 to <jats:italic>PDGFRA<\/jats:italic> exon 13, resulting in overexpression of <jats:italic>PDGFRA<\/jats:italic>. The design of a specific quantitative PCR assay to monitor the molecular response during treatment with imatinib, a multitargeted tyrosine kinase inhibitor (TKI) with activity against <jats:italic>ABL<\/jats:italic>,<jats:italic> c\u2010Kit,<\/jats:italic> and <jats:italic>PDGFRA<\/jats:italic> revealed an outstanding disease control with durably undetectable <jats:italic>BCR\u2010PDGFRA<\/jats:italic> transcripts. Multiple TKIs are currently available yet with distinct target profiles; thus, accurate molecular diagnosis and monitoring tools are essential to establish tailored treatments and assess response to therapy in this type of rare hematological malignancy.<\/jats:p>","DOI":"10.1111\/ejh.12576","type":"journal-article","created":{"date-parts":[[2015,5,4]],"date-time":"2015-05-04T07:33:59Z","timestamp":1430724839000},"page":"480-483","source":"Crossref","is-referenced-by-count":3,"title":["Novel fusion between the breakpoint cluster region and platelet\u2010derived growth factor receptor\u2010alpha genes in a patient with chronic myeloid leukemia\u2010like neoplasm: undetectable residual disease after imatinib therapy"],"prefix":"10.1111","volume":"95","author":[{"given":"Thomas","family":"Cluzeau","sequence":"first","affiliation":[{"name":"Service d'H\u00e9matologie adulte H\u00f4pital Saint Louis, AP\u2010HP Paris France"},{"name":"Centre M\u00e9diterran\u00e9en de Medecine Mol\u00e9culaire INSERM U1065 Nice France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Lippert","sequence":"additional","affiliation":[{"name":"Laboratoire d'H\u00e9matologie H\u00f4pital Haut\u2010L\u00e9v\u00eaque CHU de Bordeaux Pessac France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Michel","family":"Cayuela","sequence":"additional","affiliation":[{"name":"Laboratoire d'h\u00e9matologie H\u00f4pital Saint Louis Universit\u00e9 Paris Diderot, AP\u2010HP Paris France"},{"name":"EA3518 University Paris Diderot Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Odile","family":"Maarek","sequence":"additional","affiliation":[{"name":"Laboratoire de Cytog\u00e9n\u00e9tique H\u00f4pital Saint Louis, AP\u2010HP Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Migeon","sequence":"additional","affiliation":[{"name":"Laboratoire d'H\u00e9matologie H\u00f4pital Haut\u2010L\u00e9v\u00eaque CHU de Bordeaux Pessac France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria\u2010Elena","family":"Noguera","sequence":"additional","affiliation":[{"name":"Laboratoire Central d'H\u00e9matologie H\u00f4pital Saint Louis, AP\u2010HP Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herv\u00e9","family":"Dombret","sequence":"additional","affiliation":[{"name":"Service d'H\u00e9matologie adulte H\u00f4pital Saint Louis, AP\u2010HP Paris France"},{"name":"Laboratoire d'h\u00e9matologie H\u00f4pital Saint Louis Universit\u00e9 Paris Diderot, AP\u2010HP Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delphine","family":"Rea","sequence":"additional","affiliation":[{"name":"Service d'H\u00e9matologie adulte H\u00f4pital Saint Louis, AP\u2010HP Paris France"},{"name":"Laboratoire d'h\u00e9matologie H\u00f4pital Saint Louis Universit\u00e9 Paris Diderot, AP\u2010HP Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,5,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-03-209262"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.021675"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.12.1391"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20014"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2012.02.019"}],"container-title":["European Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fejh.12576","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ejh.12576","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T17:14:57Z","timestamp":1696353297000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ejh.12576"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,20]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["10.1111\/ejh.12576"],"URL":"https:\/\/doi.org\/10.1111\/ejh.12576","archive":["Portico"],"relation":{},"ISSN":["0902-4441","1600-0609"],"issn-type":[{"value":"0902-4441","type":"print"},{"value":"1600-0609","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,20]]}}}