{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T12:03:31Z","timestamp":1773921811489,"version":"3.50.1"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2009,2,2]],"date-time":"2009-02-02T00:00:00Z","timestamp":1233532800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Hematol"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Primary eosinophlia associated with the <jats:italic>FIP1L1-PDGFRA<\/jats:italic> rearrangement represents a subset of chronic eosinophilic leukaemia (CEL) and affected patients are very sensitive to imatinib treatment. This study was undertaken in order to examine the prevalence and the associated clinicopathologic and genetic features of <jats:italic>FIP1L1-PDGFRA<\/jats:italic> rearrangement in a cohort of 15 adult patients presenting with profound eosinophilia (&gt; 1.5 \u00d7 10<jats:sup>9<\/jats:sup>\/L).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Reverse transcriptase-polymerase chain reaction (RT-PCR) was used for the detection of <jats:italic>FIP1L1-PDGFRA<\/jats:italic> rearrangement and the results confirmed by direct sequencing. <jats:italic>C-KIT<\/jats:italic>-D816V mutation was analysed retrospectively by PCR and restriction-fragment-length-polymorphism (PCR-RFLP), in all cases with primary eosinophilia.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Two male patients with splenomegaly carried the <jats:italic>FIP1L1-PDGFRA<\/jats:italic> rearrangement, whilst 2 others were ultimately classified as suffering from idiopathic hypereosinophlic syndrome (HES) and one from systemic mastocytosis. These patients were negative for the <jats:italic>C-KIT<\/jats:italic>-D816V mutation and received imatinib (100\u2013400 mg daily). Patients with CEL and HES responded to imatinib and remained in complete haematological, clinical and molecular (for carriers of <jats:italic>FIP1L1-PDGFRA<\/jats:italic> rearrangement) remission for a median of 28.2 months (range: 11\u201354), whilst the patient with systemic mastocytosis did not respond. Interestingly, in both patients with <jats:italic>FIP1L1-PDGFRA<\/jats:italic> rearrangement, the breakpoints into <jats:italic>PDGFRA<\/jats:italic> were located within exon 12 and fused with exons 8 and 8a of <jats:italic>FIP1L1<\/jats:italic>, respectively.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>An early diagnosis of <jats:italic>FIPIL1-PDGFRA<\/jats:italic>-positive CEL and imatinib treatment offer to the affected patients an excellent clinical therapeutic result, avoiding undesirable morbidity. Moreover, although the molecular mechanisms underlying disease pathogenesis remain to be determined, imatinib can be effective in patients with idiopathic HES.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2326-9-1","type":"journal-article","created":{"date-parts":[[2009,2,3]],"date-time":"2009-02-03T07:14:47Z","timestamp":1233645287000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["FIP1L1-PDGFRA molecular analysis in the differential diagnosis of eosinophilia"],"prefix":"10.1186","volume":"9","author":[{"given":"Gedeon","family":"Loules","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fani","family":"Kalala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikolaos","family":"Giannakoulas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanouil","family":"Papadakis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Panagiota","family":"Matsouka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthaios","family":"Speletas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2009,2,2]]},"reference":[{"key":"32_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1097\/00005792-197501000-00001","volume":"54","author":"MJ Chusid","year":"1975","unstructured":"Chusid MJ, Dale DC, West BC, Wolff SM: The hypereosinophilic syndrome: analysis of fourteen cases with review of the literature. 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