{"id":"https://openalex.org/W1554784620","doi":"https://doi.org/10.1182/blood.v106.11.3253.3253","title":"The Platelet-Derived Growth Factor Receptor beta Fuses to Two Distinct Loci at 3p21 in Imatinib Responsive Chronic Eosinophilic Leukemia.","display_name":"The Platelet-Derived Growth Factor Receptor beta Fuses to Two Distinct Loci at 3p21 in Imatinib Responsive Chronic Eosinophilic Leukemia.","publication_year":2005,"publication_date":"2005-11-16","ids":{"openalex":"https://openalex.org/W1554784620","doi":"https://doi.org/10.1182/blood.v106.11.3253.3253","mag":"1554784620"},"language":"en","primary_location":{"id":"doi:10.1182/blood.v106.11.3253.3253","doi":"https://doi.org/10.1182/blood.v106.11.3253.3253","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v106.11.3253.3253","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5007868376","display_name":"Claire Curtis","orcid":"https://orcid.org/0000-0001-5151-0914","observed_orcids":["https://orcid.org/0000-0001-5151-0914"]},"institutions":[{"id":"https://openalex.org/I4210129558","display_name":"Wessex Regional Genetics Laboratory","ror":"https://ror.org/02t83f864","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210129558","https://openalex.org/I79209787"]},{"id":"https://openalex.org/I43439940","display_name":"University of Southampton","ror":"https://ror.org/01ryk1543","country_code":"GB","type":"education","lineage":["https://openalex.org/I43439940"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Claire Curtis","raw_affiliation_strings":["Wessex Regional Genetics Laboratory, University of Southampton, Salisbury, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Wessex Regional Genetics Laboratory, University of Southampton, Salisbury, United Kingdom","institution_ids":["https://openalex.org/I4210129558","https://openalex.org/I43439940"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074115908","display_name":"Jane F. Apperley","orcid":"https://orcid.org/0000-0002-1710-1794","observed_orcids":["https://orcid.org/0000-0002-1710-1794"]},"institutions":[{"id":"https://openalex.org/I47508984","display_name":"Imperial College London","ror":"https://ror.org/041kmwe10","country_code":"GB","type":"education","lineage":["https://openalex.org/I47508984"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jane F. Apperley","raw_affiliation_strings":["Dept. of Haematology, Imperial College, London, United Kingdom","Department of Haematology, Imperial College, London, United Kingdom,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept. of Haematology, Imperial College, London, United Kingdom","institution_ids":["https://openalex.org/I47508984"]},{"raw_affiliation_string":"Department of Haematology, Imperial College, London, United Kingdom,","institution_ids":["https://openalex.org/I47508984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112704967","display_name":"Raymond Kai Bong Dang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210129558","display_name":"Wessex Regional Genetics Laboratory","ror":"https://ror.org/02t83f864","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210129558","https://openalex.org/I79209787"]},{"id":"https://openalex.org/I43439940","display_name":"University of Southampton","ror":"https://ror.org/01ryk1543","country_code":"GB","type":"education","lineage":["https://openalex.org/I43439940"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Raymond Dang","raw_affiliation_strings":["Wessex Regional Genetics Laboratory, University of Southampton, Salisbury, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Wessex Regional Genetics Laboratory, University of Southampton, Salisbury, United Kingdom","institution_ids":["https://openalex.org/I4210129558","https://openalex.org/I43439940"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043451328","display_name":"Michael Jeng","orcid":"https://orcid.org/0000-0001-8200-8484","observed_orcids":["https://orcid.org/0000-0001-8200-8484"]},"institutions":[{"id":"https://openalex.org/I4210137306","display_name":"Stanford Medicine","ror":"https://ror.org/03mtd9a03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]},{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael Jeng","raw_affiliation_strings":["Stanford University School of Medicine, Stanford, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Stanford University School of Medicine, Stanford, CA, USA","institution_ids":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065621786","display_name":"Jason R. Gotlib","orcid":"https://orcid.org/0000-0001-8253-6156","observed_orcids":["https://orcid.org/0000-0001-8253-6156"]},"institutions":[{"id":"https://openalex.org/I4210137306","display_name":"Stanford Medicine","ror":"https://ror.org/03mtd9a03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]},{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jason Gotlib","raw_affiliation_strings":["Stanford University School of Medicine, Stanford, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Stanford University School of Medicine, Stanford, CA, USA","institution_ids":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036839901","display_name":"Nicholas C.P. Cross","orcid":"https://orcid.org/0000-0001-5481-2555","observed_orcids":["https://orcid.org/0000-0001-5481-2555"]},"institutions":[{"id":"https://openalex.org/I4210129558","display_name":"Wessex Regional Genetics Laboratory","ror":"https://ror.org/02t83f864","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210129558","https://openalex.org/I79209787"]},{"id":"https://openalex.org/I43439940","display_name":"University of Southampton","ror":"https://ror.org/01ryk1543","country_code":"GB","type":"education","lineage":["https://openalex.org/I43439940"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Nicholas C.P. Cross","raw_affiliation_strings":["Wessex Regional Genetics Laboratory, University of Southampton, Salisbury, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Wessex Regional Genetics Laboratory, University of Southampton, Salisbury, United Kingdom","institution_ids":["https://openalex.org/I4210129558","https://openalex.org/I43439940"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5112436254","display_name":"Francis Grand","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210129558","display_name":"Wessex Regional Genetics Laboratory","ror":"https://ror.org/02t83f864","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210129558","https://openalex.org/I79209787"]},{"id":"https://openalex.org/I43439940","display_name":"University of Southampton","ror":"https://ror.org/01ryk1543","country_code":"GB","type":"education","lineage":["https://openalex.org/I43439940"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Francis H. Grand","raw_affiliation_strings":["Wessex Regional Genetics Laboratory, University of Southampton, Salisbury, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Wessex Regional Genetics Laboratory, University of Southampton, Salisbury, United Kingdom","institution_ids":["https://openalex.org/I4210129558","https://openalex.org/I43439940"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":0.7079,"has_fulltext":false,"cited_by_count":9,"citation_normalized_percentile":{"value":0.70177899,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"106","issue":"11","first_page":"3253","last_page":"3253"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12600","display_name":"Eosinophilic Disorders and Syndromes","score":0.9526000022888184,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12600","display_name":"Eosinophilic Disorders and Syndromes","score":0.9526000022888184,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11215","display_name":"Chronic Myeloid Leukemia Treatments","score":0.011300000362098217,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10309","display_name":"Acute Myeloid Leukemia Research","score":0.004000000189989805,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/chronic-eosinophilic-leukemia","display_name":"chronic eosinophilic leukemia","score":0.9240000247955322},{"id":"https://openalex.org/keywords/3p21","display_name":"3p21","score":0.6779999732971191},{"id":"https://openalex.org/keywords/imatinib-response","display_name":"imatinib response","score":0.7570000290870667},{"id":"https://openalex.org/keywords/tyrosine-kinase-inhibitors","display_name":"tyrosine kinase inhibitors","score":0.722000002861023},{"id":"https://openalex.org/keywords/bcr-abl-negative","display_name":"BCR-ABL-negative","score":0.6850000023841858},{"id":"https://openalex.org/keywords/gene-rearrangement","display_name":"gene rearrangement","score":0.5299999713897705},{"id":"https://openalex.org/keywords/blast-crisis","display_name":"blast crisis","score":0.5360000133514404},{"id":"https://openalex.org/keywords/cytogenetic-remission","display_name":"cytogenetic remission","score":0.7429999709129333}],"concepts":[{"id":"https://openalex.org/C78221974","wikidata":"https://www.wikidata.org/wiki/Q18030425","display_name":"PDGFRB","level":3,"score":0.808263897895813},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7002624273300171},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.6800307035446167},{"id":"https://openalex.org/C111829193","wikidata":"https://www.wikidata.org/wiki/Q1108970","display_name":"Fusion gene","level":3,"score":0.6160900592803955},{"id":"https://openalex.org/C3019892230","wikidata":"https://www.wikidata.org/wiki/Q177094","display_name":"Imatinib mesylate","level":4,"score":0.609337329864502},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.597008466720581},{"id":"https://openalex.org/C123894998","wikidata":"https://www.wikidata.org/wiki/Q425158","display_name":"Fusion protein","level":4,"score":0.5832021832466125},{"id":"https://openalex.org/C42362537","wikidata":"https://www.wikidata.org/wiki/Q87099740","display_name":"Tyrosine kinase","level":3,"score":0.5401020050048828},{"id":"https://openalex.org/C32619005","wikidata":"https://www.wikidata.org/wiki/Q24768234","display_name":"Protein kinase domain","level":4,"score":0.4656553864479065},{"id":"https://openalex.org/C50724178","wikidata":"https://www.wikidata.org/wiki/Q381434","display_name":"Rapid amplification of cDNA ends","level":5,"score":0.43661242723464966},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.3861314356327057},{"id":"https://openalex.org/C2777583451","wikidata":"https://www.wikidata.org/wiki/Q177094","display_name":"Imatinib","level":3,"score":0.32771939039230347},{"id":"https://openalex.org/C187882448","wikidata":"https://www.wikidata.org/wiki/Q283478","display_name":"Complementary DNA","level":3,"score":0.3275632858276367},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.20407935976982117},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.19028973579406738},{"id":"https://openalex.org/C2778729363","wikidata":"https://www.wikidata.org/wiki/Q11688946","display_name":"Myeloid leukemia","level":2,"score":0.1363760530948639},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.13353312015533447},{"id":"https://openalex.org/C19924922","wikidata":"https://www.wikidata.org/wiki/Q408351","display_name":"Molecular cloning","level":4,"score":0.07444146275520325},{"id":"https://openalex.org/C40767141","wikidata":"https://www.wikidata.org/wiki/Q285697","display_name":"Recombinant DNA","level":3,"score":0.0},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1182/blood.v106.11.3253.3253","doi":"https://doi.org/10.1182/blood.v106.11.3253.3253","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood.v106.11.3253.3253","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},{"id":"pmh:oai:eprints.soton.ac.uk:60547","doi":null,"is_oa":false,"landing_page_url":"https://eprints.soton.ac.uk/60547/","pdf_url":null,"source":{"id":"https://openalex.org/S4306401019","display_name":"ePrints Soton (University of Southampton)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I43439940","host_organization_name":"University of Southampton","host_organization_lineage":["https://openalex.org/I43439940"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9922999739646912,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2001336077","https://openalex.org/W2006236202","https://openalex.org/W2152486214","https://openalex.org/W2027282243","https://openalex.org/W2554004140","https://openalex.org/W2911453493","https://openalex.org/W2157713226","https://openalex.org/W4230424386","https://openalex.org/W2979473931","https://openalex.org/W2147029510"],"abstract_inverted_index":{"Abstract":[0],"We":[1,345],"have":[2],"identified":[3,66,143],"three":[4,54,245],"patients":[5,246],"(2":[6],"adults,":[7],"one":[8],"infant)":[9],"who":[10],"presented":[11],"with":[12,249,269],"BCR-ABL":[13],"negative":[14,124,314],"eosinophilic":[15],"myeloproliferative":[16],"disorders.":[17],"Cytogenetic":[18],"analysis":[19],"revealed":[20],"a":[21,27,92,144,147,223,325],"t(1;3;5)(p36;p21;q33)":[22],"for":[23,29,63,125,235,266,315,369],"case":[24,64,140,169,236],"1":[25,65,252],"and":[26,32,112,121,189,199,216,304,309],"t(3;5)(p21\u201325;q31\u201335)":[28],"cases":[30],"2":[31,120,141,293,301],"3.":[33,170],"Two-color":[34],"fluorescence":[35],"in":[36,52,168,203,254,306,338],"situ":[37],"hybridization":[38],"(FISH)":[39],"using":[40,132],"differentially":[41],"labelled":[42],"probes":[43],"flanking":[44],"PDGFRB":[45,242,348],"indicated":[46],"that":[47,98,347],"this":[48],"gene":[49,77],"was":[50,154,166,212,253,335],"disrupted":[51],"all":[53,210,244],"cases.":[55],"5\u2032":[56],"rapid":[57],"amplification":[58],"of":[59,71,74,83,106,117,135,160,183,194,209,218,226,232,241,262,287,296,340,364,372],"cDNA":[60],"ends":[61],"(5\u2032RACE)":[62],"an":[67],"in-frame":[68,156],"mRNA":[69,87,129],"fusion":[70,96,128,145,165],"exon":[72,81,152,158],"9":[73],"the":[75,100,110,126,163,178,187,219,230,239,290,333],"WDR48":[76,107,198],"at":[78,342],"3p21":[79,149],"to":[80,90,109,157,186,259,284,329,350,354,357],"12":[82],"PDGFRB.":[84,161],"The":[85,171,207],"chimeric":[86],"is":[88,367],"predicted":[89,172],"encode":[91],"872":[93],"amino":[94,101,174,179],"acid":[95,175],"protein":[97,176],"retains":[99],"terminal":[102,180],"WD":[103],"repeat":[104],"region":[105],"fused":[108,155,185],"transmembrane":[111,188],"intracellular":[113,190],"tyrosine":[114,191],"kinase":[115,192],"domains":[116,193],"PDGFRbeta.":[118,195],"Cases":[119],"3":[122,285,318,343],"were":[123,247],"WDR48-PDGFRB":[127],"by":[130,214],"RT-PCR":[131,215,313],"several":[133],"combinations":[134],"primers.":[136],"5\u2032RACE":[137],"PCR":[138],"from":[139],"RNA":[142],"involving":[146],"second":[148],"gene:":[150],"GOLGA4":[151,184,200],"11":[153,159],"Exactly":[162],"same":[164],"found":[167],"991":[173],"included":[177],"coiled-coil":[181],"domain":[182],"Interestingly,":[196],"both":[197],"are":[201],"involved":[202],"endocytic":[204],"shuttling":[205],"pathways.":[206],"presence":[208],"fusions":[211,366],"confirmed":[213],"identification":[217,240,363],"genomic":[220],"breakpoints.":[221],"Imatinib,":[222],"known":[224],"inhibitor":[225],"PDGFRbeta,":[227],"selectively":[228],"blocked":[229],"growth":[231],"patient":[233,291],"CFU-GM":[234],"2.":[237],"Following":[238],"rearrangements,":[243],"treated":[248],"imatinib.":[250],"Case":[251,300,317],"transformation,":[255],"but":[256,273,289,332],"responded":[257,282,302],"rapidly":[258],"minimal":[260],"doses":[261],"imatinib":[263,331],"(800mg":[264],"daily":[265],"4":[267],"days)":[268],"complete":[270,326],"cytogenetic":[271,308],"remission":[272,311],"remained":[274],"pancytopenic.":[275],"Blast":[276],"crisis":[277],"recurred":[278],"8":[279],"months":[280,294],"later,":[281],"similarly":[283],"days":[286],"imatinib,":[288],"died":[292],"later":[295],"invasive":[297],"fungal":[298],"infection.":[299],"clinically":[303],"remains":[305],"sustained":[307],"molecular":[310],"(nested":[312],"GOLGA4-PDGFRB).":[316],"(a":[319],"13":[320],"month":[321],"old":[322],"boy)":[323],"had":[324],"hematologic":[327],"response":[328],"50mg/day":[330],"t(3;5)":[334],"still":[336],"seen":[337],"40%":[339],"metaphases":[341],"months.":[344],"conclude":[346],"fuses":[349],"diverse":[351],"partner":[352],"genes":[353],"give":[355],"rise":[356],"atypical":[358],"MPDs.":[359],"Although":[360],"very":[361],"rare,":[362],"these":[365],"critical":[368],"proper":[370],"management":[371],"affected":[373],"individuals.":[374]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2016-06-24T00:00:00"}
