{"id":"https://openalex.org/W4242875413","doi":"https://doi.org/10.1080/080352502320764300","title":"Using fluorescence-activated cell sorting followed by fluorescence in situ hybridization to study lineage relationships: the 8;21 translocation is present in neutrophils but not monocytes in a patient with severe congenital neutropenia and a granulocyte colony-stimulating factor-responsive clonal abnormality","display_name":"Using fluorescence-activated cell sorting followed by fluorescence in situ hybridization to study lineage relationships: the 8;21 translocation is present in neutrophils but not monocytes in a patient with severe congenital neutropenia and a granulocyte colony-stimulating factor-responsive clonal abnormality","publication_year":2002,"publication_date":"2002-09-01","ids":{"openalex":"https://openalex.org/W4242875413","doi":"https://doi.org/10.1080/080352502320764300","pmid":"https://pubmed.ncbi.nlm.nih.gov/12477275"},"language":"en","primary_location":{"id":"doi:10.1080/080352502320764300","doi":"https://doi.org/10.1080/080352502320764300","is_oa":false,"landing_page_url":"https://doi.org/10.1080/080352502320764300","pdf_url":null,"source":{"id":"https://openalex.org/S178469169","display_name":"Acta Paediatrica","issn_l":"0365-1436","issn":["0365-1436","0803-5253","1651-2227"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-2","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta Paediatrica","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"C White","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C White","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039519215","display_name":"Z Chen","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Z Chen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021641085","display_name":"E Raetz","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E Raetz","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006173110","display_name":"Michael A. Pulsipher","orcid":"https://orcid.org/0000-0003-3030-8420","observed_orcids":["https://orcid.org/0000-0003-3030-8420"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Pulsipher","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043507707","display_name":"Gerald J. Spangrude","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G J Spangrude","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5048668217","display_name":"W B Slayton","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"W B Slayton","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4480,"currency":"USD","value_usd":4480},"apc_paid":null,"fwci":0.3536,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.65167166,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"91","issue":"9","first_page":"120","last_page":"123"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10309","display_name":"Acute Myeloid Leukemia Research","score":0.00019999999494757503,"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/21-translocation","display_name":"21 translocation","score":0.9869999885559082},{"id":"https://openalex.org/keywords/congenital-neutropenia","display_name":"congenital neutropenia","score":0.8949999809265137},{"id":"https://openalex.org/keywords/neutrophils","display_name":"neutrophils","score":0.949999988079071},{"id":"https://openalex.org/keywords/monocytes","display_name":"monocytes","score":0.9990000128746033},{"id":"https://openalex.org/keywords/lineage-relationships","display_name":"lineage relationships","score":0.8389999866485596},{"id":"https://openalex.org/keywords/granulocyte-colony-stimulating-factor","display_name":"granulocyte colony-stimulating factor","score":0.8840000033378601},{"id":"https://openalex.org/keywords/clonal-abnormalities","display_name":"clonal abnormalities","score":0.9750000238418579},{"id":"https://openalex.org/keywords/acute-promyelocytic-leukemia","display_name":"acute promyelocytic leukemia","score":0.7099999785423279},{"id":"https://openalex.org/keywords/hematopoietic-lineage","display_name":"hematopoietic lineage","score":0.5189999938011169}],"concepts":[{"id":"https://openalex.org/C2777542201","wikidata":"https://www.wikidata.org/wiki/Q1336182","display_name":"Fluorescence in situ hybridization","level":4,"score":0.8633930683135986},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7955419421195984},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.7479417324066162},{"id":"https://openalex.org/C2778630268","wikidata":"https://www.wikidata.org/wiki/Q17113277","display_name":"Cell sorting","level":3,"score":0.6872197389602661},{"id":"https://openalex.org/C91881484","wikidata":"https://www.wikidata.org/wiki/Q191807","display_name":"Fluorescence","level":2,"score":0.589884340763092},{"id":"https://openalex.org/C2777822432","wikidata":"https://www.wikidata.org/wiki/Q216681","display_name":"In situ","level":2,"score":0.5351764559745789},{"id":"https://openalex.org/C2776817793","wikidata":"https://www.wikidata.org/wiki/Q6553369","display_name":"Lineage (genetic)","level":3,"score":0.5008423328399658},{"id":"https://openalex.org/C111696304","wikidata":"https://www.wikidata.org/wiki/Q2303697","display_name":"Sorting","level":2,"score":0.4969504177570343},{"id":"https://openalex.org/C81439078","wikidata":"https://www.wikidata.org/wiki/Q2304142","display_name":"In situ hybridization","level":4,"score":0.4964678883552551},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.4118845462799072},{"id":"https://openalex.org/C553184892","wikidata":"https://www.wikidata.org/wiki/Q1141429","display_name":"Flow cytometry","level":2,"score":0.3681609630584717},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.36305588483810425},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.34269803762435913},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.2893483638763428},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.20538726449012756},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1216694712638855},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.10996374487876892},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0967336893081665},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.07928603887557983},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0},{"id":"https://openalex.org/C153294291","wikidata":"https://www.wikidata.org/wiki/Q25261","display_name":"Meteorology","level":1,"score":0.0},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.0},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0},{"id":"https://openalex.org/C62520636","wikidata":"https://www.wikidata.org/wiki/Q944","display_name":"Quantum mechanics","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002471","descriptor_name":"Cell Transformation, Neoplastic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002891","descriptor_name":"Chromosomes, Human, Pair 21","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003131","descriptor_name":"Combined Modality Therapy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005434","descriptor_name":"Flow Cytometry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005500","descriptor_name":"Follow-Up Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009000","descriptor_name":"Monocytes","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D009190","descriptor_name":"Myelodysplastic Syndromes","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009190","descriptor_name":"Myelodysplastic Syndromes","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D009503","descriptor_name":"Neutropenia","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"descriptor_ui":"D009503","descriptor_name":"Neutropenia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009503","descriptor_name":"Neutropenia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009503","descriptor_name":"Neutropenia","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D009504","descriptor_name":"Neutrophils","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D011230","descriptor_name":"Precancerous Conditions","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012720","descriptor_name":"Severity of Illness Index","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014178","descriptor_name":"Translocation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016026","descriptor_name":"Bone Marrow Transplantation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016179","descriptor_name":"Granulocyte Colony-Stimulating Factor","qualifier_ui":"Q000627","qualifier_name":"therapeutic use","is_major_topic":true},{"descriptor_ui":"D016896","descriptor_name":"Treatment Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018570","descriptor_name":"Risk Assessment","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019070","descriptor_name":"Cell Lineage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1080/080352502320764300","doi":"https://doi.org/10.1080/080352502320764300","is_oa":false,"landing_page_url":"https://doi.org/10.1080/080352502320764300","pdf_url":null,"source":{"id":"https://openalex.org/S178469169","display_name":"Acta Paediatrica","issn_l":"0365-1436","issn":["0365-1436","0803-5253","1651-2227"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-2","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta Paediatrica","raw_type":"journal-article"},{"id":"doi:10.1111/j.1651-2227.2002.tb02916.x","doi":"https://doi.org/10.1111/j.1651-2227.2002.tb02916.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1651-2227.2002.tb02916.x","pdf_url":null,"source":{"id":"https://openalex.org/S178469169","display_name":"Acta Paediatrica","issn_l":"0365-1436","issn":["0365-1436","0803-5253","1651-2227"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-2","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta Paediatrica","raw_type":"journal-article"},{"id":"pmid:12477275","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12477275","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta paediatrica (Oslo, Norway : 1992). Supplement","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8560000061988831}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G1298580141","display_name":null,"funder_award_id":"K08 HL03962","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G6141866301","display_name":"PROGENITORS FOR ERYTHROCYTIC &MEGAKARYOCYTIC LINEAGES","funder_award_id":"K08HL003962","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":22,"referenced_works":["https://openalex.org/W5027048","https://openalex.org/W51791417","https://openalex.org/W1525631450","https://openalex.org/W1963997280","https://openalex.org/W1993026521","https://openalex.org/W1995142305","https://openalex.org/W1997620849","https://openalex.org/W2029732911","https://openalex.org/W2039042294","https://openalex.org/W2048461498","https://openalex.org/W2079705202","https://openalex.org/W2091908690","https://openalex.org/W2095095686","https://openalex.org/W2097519948","https://openalex.org/W2102085111","https://openalex.org/W2154754515","https://openalex.org/W2154958767","https://openalex.org/W2172194507","https://openalex.org/W2258727154","https://openalex.org/W2333822974","https://openalex.org/W2410465152","https://openalex.org/W4241380672"],"related_works":["https://openalex.org/W2411502254","https://openalex.org/W1992438973","https://openalex.org/W2581179933","https://openalex.org/W1992980196","https://openalex.org/W204044603","https://openalex.org/W2039042294","https://openalex.org/W2017061918","https://openalex.org/W2406203050","https://openalex.org/W4241380672","https://openalex.org/W2019332681"],"abstract_inverted_index":{"UNLABELLED:":[0],"Severe":[1],"congenital":[2,33],"neutropenia":[3],"(Kostmann":[4],"syndrome)":[5],"is":[6],"a":[7,25,29,37,130],"disorder":[8],"that":[9,125],"presents":[10],"in":[11,20,80,108,115,129,136,149,155],"the":[12,42,101,126,134],"neonatal":[13],"period,":[14],"but":[15,113],"predisposes":[16],"to":[17,73,95],"leukemia":[18],"later":[19],"life.":[21],"This":[22],"report":[23],"describes":[24],"4-y-old":[26],"female":[27],"with":[28,41,160],"history":[30],"of":[31],"severe":[32],"neutropenia,":[34],"who":[35],"developed":[36],"clonal":[38,157],"abnormality":[39],"associated":[40,159],"translocation":[43,105,127],"(7;21;8)":[44],"(q32;q22;q22)":[45],"(AML-1/ETO).":[46],"She":[47],"had":[48,100],"circulating":[49],"peripheral":[50],"blasts":[51,71],"and":[52,111,140,153,162],"bone":[53,87],"marrow":[54,70,88],"blast":[55],"counts":[56],"as":[57,59],"high":[58],"64%":[60],"when":[61,75],"she":[62],"received":[63],"recombinant":[64],"granulocyte":[65],"colony-stimulating":[66],"factor":[67],"(rG-CSF).":[68],"Her":[69],"decreased":[72],"4-20%":[74],"rG-CSF":[76],"was":[77,84,106],"discontinued.":[78],"Fluorescence":[79],"situ":[81],"hybridization":[82],"analysis":[83],"performed":[85],"on":[86],"cell":[89,98],"populations":[90,99],"sorted":[91],"by":[92],"flow":[93],"cytometry":[94],"determine":[96],"which":[97],"AML-1/ETO":[102],"translocation.":[103],"The":[104,143],"found":[107],"mature":[109],"neutrophils":[110,141],"blasts,":[112],"not":[114],"monocytes,":[116],"lymphocytes":[117],"or":[118],"stem":[119],"cells.":[120],"CONCLUSION:":[121],"These":[122],"findings":[123],"suggest":[124],"occurred":[128],"neutrophil":[131],"progenitor,":[132],"past":[133],"point":[135],"ontogeny":[137],"where":[138],"monocytes":[139],"separate.":[142],"techniques":[144],"described":[145],"may":[146],"be":[147],"useful":[148],"understanding":[150],"lineage":[151],"relationships":[152],"leukemogenesis":[154],"other":[156],"abnormalities":[158],"myelodysplasia":[161],"leukemia.":[163]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2022-05-12T00:00:00"}
