{"id":"https://openalex.org/W4386024751","doi":"https://doi.org/10.1097/01.hs9.0000969208.08416.e8","title":"P576: PREVALENCE AND CLINICAL SIGNIFICANCE OF GERMLINE MUTATIONS IN ACUTE MYELOID LEUKEMIA PATIENTS - A SINGLE-CENTER EXPERIENCE","display_name":"P576: PREVALENCE AND CLINICAL SIGNIFICANCE OF GERMLINE MUTATIONS IN ACUTE MYELOID LEUKEMIA PATIENTS - A SINGLE-CENTER EXPERIENCE","publication_year":2023,"publication_date":"2023-08-01","ids":{"openalex":"https://openalex.org/W4386024751","doi":"https://doi.org/10.1097/01.hs9.0000969208.08416.e8","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/10429126"},"language":"en","primary_location":{"id":"doi:10.1097/01.hs9.0000969208.08416.e8","doi":"https://doi.org/10.1097/01.hs9.0000969208.08416.e8","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1097/01.hs9.0000969208.08416.e8","pdf_url":null,"source":{"id":"https://openalex.org/S4210211592","display_name":"HemaSphere","issn_l":"2572-9241","issn":["2572-9241"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-2","norway-1","oarl","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"HemaSphere","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","is_traditional":false,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"http://dx.doi.org/10.1097/01.hs9.0000969208.08416.e8","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5101231916","display_name":"Sheraz Bashir","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210101239","display_name":"East Suffolk and North Essex NHS Foundation Trust","ror":"https://ror.org/019g08z42","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210101239"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Sheraz Bashir","raw_affiliation_strings":["East Suffolk And North Essex Nhs Foundation Trust, Sheraz Bashir and Victor Ling are co-first authors, Ipswich"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"East Suffolk And North Essex Nhs Foundation Trust, Sheraz Bashir and Victor Ling are co-first authors, Ipswich","institution_ids":["https://openalex.org/I4210101239"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051827745","display_name":"Victor Wei Teik Ling","orcid":"https://orcid.org/0000-0002-8279-0645","observed_orcids":["https://orcid.org/0000-0002-8279-0645"]},"institutions":[{"id":"https://openalex.org/I4210101239","display_name":"East Suffolk and North Essex NHS Foundation Trust","ror":"https://ror.org/019g08z42","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210101239"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Victor Ling","raw_affiliation_strings":["East Suffolk And North Essex Nhs Foundation Trust, Sheraz Bashir and Victor Ling are co-first authors, Ipswich"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"East Suffolk And North Essex Nhs Foundation Trust, Sheraz Bashir and Victor Ling are co-first authors, Ipswich","institution_ids":["https://openalex.org/I4210101239"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004946795","display_name":"Chrishthuka Kangatharan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210101239","display_name":"East Suffolk and North Essex NHS Foundation Trust","ror":"https://ror.org/019g08z42","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210101239"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Chrishthuka Kangatharan","raw_affiliation_strings":["East Suffolk And North Essex NHS Foundation Trust, Ipswich, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"East Suffolk And North Essex NHS Foundation Trust, Ipswich, United Kingdom","institution_ids":["https://openalex.org/I4210101239"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Michelle Richardson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210101239","display_name":"East Suffolk and North Essex NHS Foundation Trust","ror":"https://ror.org/019g08z42","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210101239"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michelle Richardson","raw_affiliation_strings":["East Suffolk And North Essex NHS Foundation Trust, Ipswich, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"East Suffolk And North Essex NHS Foundation Trust, Ipswich, United Kingdom","institution_ids":["https://openalex.org/I4210101239"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112984204","display_name":"Seoksan Teh","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210101239","display_name":"East Suffolk and North Essex NHS Foundation Trust","ror":"https://ror.org/019g08z42","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210101239"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Seoksan Teh","raw_affiliation_strings":["East Suffolk And North Essex NHS Foundation Trust, Ipswich, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"East Suffolk And North Essex NHS Foundation Trust, Ipswich, United Kingdom","institution_ids":["https://openalex.org/I4210101239"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016926957","display_name":"Zafar Ullah","orcid":"https://orcid.org/0000-0002-5720-7585","observed_orcids":["https://orcid.org/0000-0002-5720-7585"]},"institutions":[{"id":"https://openalex.org/I4210101239","display_name":"East Suffolk and North Essex NHS Foundation Trust","ror":"https://ror.org/019g08z42","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210101239"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Zafar Ullah","raw_affiliation_strings":["East Suffolk And North Essex NHS Foundation Trust, Ipswich, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"East Suffolk And North Essex NHS Foundation Trust, Ipswich, United Kingdom","institution_ids":["https://openalex.org/I4210101239"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112976291","display_name":"Nicola Gill","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210101239","display_name":"East Suffolk and North Essex NHS Foundation Trust","ror":"https://ror.org/019g08z42","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210101239"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Nicola Gill","raw_affiliation_strings":["East Suffolk And North Essex Nhs Foundation Trust, Haematology, Ipswich, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"East Suffolk And North Essex Nhs Foundation Trust, Haematology, Ipswich, United Kingdom","institution_ids":["https://openalex.org/I4210101239"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5092611838","display_name":"Jayne Chappells","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210101239","display_name":"East Suffolk and North Essex NHS Foundation Trust","ror":"https://ror.org/019g08z42","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210101239"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jayne Chappells","raw_affiliation_strings":["East Suffolk And North Essex Nhs Foundation Trust, Haematology, Ipswich, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"East Suffolk And North Essex Nhs Foundation Trust, Haematology, Ipswich, United Kingdom","institution_ids":["https://openalex.org/I4210101239"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Joanne King","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210101239","display_name":"East Suffolk and North Essex NHS Foundation Trust","ror":"https://ror.org/019g08z42","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210101239"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Joanne King","raw_affiliation_strings":["East Suffolk And North Essex NHS Foundation Trust, Ipswich, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"East Suffolk And North Essex NHS Foundation Trust, Ipswich, United Kingdom","institution_ids":["https://openalex.org/I4210101239"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021298191","display_name":"Ioana C. Nitu\u2010Whalley","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210101239","display_name":"East Suffolk and North Essex NHS Foundation Trust","ror":"https://ror.org/019g08z42","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210101239"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Ioana Nitu-Whalley","raw_affiliation_strings":["East Suffolk And North Essex Nhs Foundation Trust, Haematology, Ipswich, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"East Suffolk And North Essex Nhs Foundation Trust, Haematology, Ipswich, United Kingdom","institution_ids":["https://openalex.org/I4210101239"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037433892","display_name":"Debo Ademokun","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210101239","display_name":"East Suffolk and North Essex NHS Foundation Trust","ror":"https://ror.org/019g08z42","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210101239"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Debo Ademokun","raw_affiliation_strings":["East Suffolk And North Essex Nhs Foundation Trust, Haematology, Ipswich, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"East Suffolk And North Essex Nhs Foundation Trust, Haematology, Ipswich, United Kingdom","institution_ids":["https://openalex.org/I4210101239"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010071867","display_name":"Andrew Hodson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210101239","display_name":"East Suffolk and North Essex NHS Foundation Trust","ror":"https://ror.org/019g08z42","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210101239"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Andrew Hodson","raw_affiliation_strings":["East Suffolk And North Essex Nhs Foundation Trust, Haematology, Ipswich, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"East Suffolk And North Essex Nhs Foundation Trust, Haematology, Ipswich, United Kingdom","institution_ids":["https://openalex.org/I4210101239"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5017433122","display_name":"Mahesh Prahladan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210101239","display_name":"East Suffolk and North Essex NHS Foundation Trust","ror":"https://ror.org/019g08z42","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210101239"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Mahesh Prahladan","raw_affiliation_strings":["East Suffolk And North Essex Nhs Foundation Trust, Haematology, Ipswich, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"East Suffolk And North Essex Nhs Foundation Trust, Haematology, Ipswich, United Kingdom","institution_ids":["https://openalex.org/I4210101239"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210101239"],"apc_list":{"value":2480,"currency":"USD","value_usd":2480},"apc_paid":{"value":2480,"currency":"USD","value_usd":2480},"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"7","issue":"S3","first_page":"e08416e8","last_page":"e08416e8"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10309","display_name":"Acute Myeloid Leukemia Research","score":0.9994999766349792,"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"}},"topics":[{"id":"https://openalex.org/T10309","display_name":"Acute Myeloid Leukemia Research","score":0.9994999766349792,"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/T10950","display_name":"Acute Lymphoblastic Leukemia research","score":9.999999747378752e-05,"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/T11559","display_name":"Retinoids in leukemia and cellular processes","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/acute-myeloid-leukemia","display_name":"acute myeloid leukemia","score":0.9879999756813049},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.9940000176429749},{"id":"https://openalex.org/keywords/cebpa","display_name":"CEBPA","score":0.7929999828338623},{"id":"https://openalex.org/keywords/runx1","display_name":"RUNX1","score":0.996999979019165},{"id":"https://openalex.org/keywords/gata2","display_name":"GATA2","score":0.8870000243186951},{"id":"https://openalex.org/keywords/ddx41","display_name":"DDX41","score":0.9929999709129333},{"id":"https://openalex.org/keywords/etv6","display_name":"ETV6","score":1.0},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.7039999961853027},{"id":"https://openalex.org/keywords/karyotypic-abnormalities","display_name":"karyotype abnormalities","score":0.9869999885559082},{"id":"https://openalex.org/keywords/trisomy-8","display_name":"trisomy 8","score":0.968999981880188},{"id":"https://openalex.org/keywords/eln-risk-stratification","display_name":"ELN risk stratification","score":0.7929999828338623},{"id":"https://openalex.org/keywords/overall-survival","display_name":"overall survival","score":0.8679999709129333},{"id":"https://openalex.org/keywords/progression-free-survival","display_name":"progression-free survival","score":0.9779999852180481},{"id":"https://openalex.org/keywords/prognosis","display_name":"prognosis","score":0.42899999022483826},{"id":"https://openalex.org/keywords/clinical-significance","display_name":"clinical significance","score":0.3919999897480011}],"concepts":[{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.7788118124008179},{"id":"https://openalex.org/C45091340","wikidata":"https://www.wikidata.org/wiki/Q17861031","display_name":"CEBPA","level":4,"score":0.7728996276855469},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.6617138981819153},{"id":"https://openalex.org/C2778729363","wikidata":"https://www.wikidata.org/wiki/Q11688946","display_name":"Myeloid leukemia","level":2,"score":0.526806116104126},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4672783613204956},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.4571644067764282},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4537217915058136},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.44391703605651855},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3905242085456848},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3568055331707001},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1595442295074463}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1097/01.hs9.0000969208.08416.e8","doi":"https://doi.org/10.1097/01.hs9.0000969208.08416.e8","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1097/01.hs9.0000969208.08416.e8","pdf_url":null,"source":{"id":"https://openalex.org/S4210211592","display_name":"HemaSphere","issn_l":"2572-9241","issn":["2572-9241"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-2","norway-1","oarl","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"HemaSphere","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:10429126","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10429126","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10429126/pdf/hs9-7-e08416e8.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hemasphere","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:d1dc03c9f8334364a42fa77ea2f03209","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/d1dc03c9f8334364a42fa77ea2f03209","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"HemaSphere, Vol 7, p e08416e8 (2023)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1097/01.hs9.0000969208.08416.e8","doi":"https://doi.org/10.1097/01.hs9.0000969208.08416.e8","is_oa":true,"landing_page_url":"http://dx.doi.org/10.1097/01.hs9.0000969208.08416.e8","pdf_url":null,"source":{"id":"https://openalex.org/S4210211592","display_name":"HemaSphere","issn_l":"2572-9241","issn":["2572-9241"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-2","norway-1","oarl","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"HemaSphere","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4386024751.pdf","grobid_xml":"https://content.openalex.org/works/W4386024751.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3207170829","https://openalex.org/W3082517250","https://openalex.org/W3036160040","https://openalex.org/W3128468797","https://openalex.org/W2123920784","https://openalex.org/W7148770870","https://openalex.org/W7212547573","https://openalex.org/W4385697712","https://openalex.org/W2566206476","https://openalex.org/W2913224547"],"abstract_inverted_index":{"Background:":[0],"Acute":[1,407],"myeloid":[2,408],"leukemia":[3,409],"(AML)":[4],"is":[5,39,52,358,379],"a":[6,54,80,88,120,180,284,316],"heterogeneous":[7],"disease":[8],"with":[9,212,236,280,295,374],"complex":[10],"genetic":[11],"landscape.":[12],"Germline":[13],"mutations":[14,60,78,195,205,232,282,314,324,388],"have":[15,24,326],"been":[16,97],"identified":[17,204],"in":[18,79,114,123,183,196,256,267,271,276,315,389],"several":[19],"AML":[20,83,93,320,372,390],"patients":[21,94,216,224,297,373],"and":[22,29,48,73,99,105,137,167,209,233,246,251,274,290,322,333,355,364,391,399],"may":[23,325],"important":[25,327],"implications":[26,328],"for":[27,140,219,329,342,371],"treatment":[28,398],"outcome.":[30],"The":[31,43,191,201,259],"recognition":[32],"of":[33,46,57,76,82,91,125,146,149,164,169,185,189,193,214,222,227,239,286,303,312,319,386],"germline":[34,59,77,121,151,181,194,281,313,375,387],"predisposition":[35],"to":[36,69,360,365,381,392,397],"hematological":[37],"cancers":[38],"becoming":[40],"more":[41,394],"prevalent.":[42],"increased":[44],"use":[45],"high-throughput":[47],"whole":[49],"genome":[50],"sequencing":[51],"identifying":[53],"significant":[55,317],"number":[56],"underlying":[58],"that":[61,347],"cause":[62],"such":[63],"cancers.":[64],"Aims:":[65],"This":[66],"study":[67,116,308],"aimed":[68],"investigate":[70],"the":[71,102,115,175,186,215,223,301,310,336,367,384],"prevalence":[72,192,311],"clinical":[74,136,353],"significance":[75],"cohort":[81,198],"patients.":[84,258],"Methods:":[85],"We":[86,134],"conducted":[87],"retrospective":[89],"analysis":[90],"51":[92,176],"who":[95],"had":[96,119,179,229,283],"diagnosed":[98],"treated":[100],"at":[101,300],"East":[103],"Suffolk":[104],"North":[106],"Essex":[107],"foundation":[108],"NHS":[109],"trust.":[110],"Patients":[111,279],"were":[112,206,254],"included":[113],"if":[117],"they":[118],"mutation":[122,182],"one":[124,184],"five":[126,187],"genes:":[127],"GATA2,":[128],"DDX41,":[129],"RUNX1,":[130],"ETV6,":[131],"or":[132],"CEBPA.":[133],"collected":[135],"genomic":[138],"data":[139,304],"each":[141],"patient,":[142],"including":[143,243],"their":[144],"date":[145,148,163,168],"birth,":[147],"diagnosis,":[150,330],"mutation,":[152],"other":[153,350],"mutations,":[154],"FISH":[155],"status,":[156,158,404],"karyotype":[157,234],"ELN":[159,261,337],"risk":[160,262,331,338],"stratification":[161,263,339],"category,":[162],"last":[165],"treatment,":[166],"death/still":[170],"alive":[171,299],"status.":[172],"Results:":[173],"Of":[174],"patients,":[177,269,273,321,344],"13":[178],"genes":[188],"interest.":[190],"our":[197,362],"was":[199,265,340],"25.5%.":[200],"most":[202],"commonly":[203],"CEBPA":[207],"(30.8%)":[208],"RUNX1":[210],"(53.8%),":[211],"none":[213],"being":[217],"positive":[218],"GATA2.":[220],"Most":[221],"(12":[225],"out":[226],"13)":[228],"additional":[230],"somatic":[231],"abnormalities,":[235,242],"varying":[237],"degrees":[238],"complexity.":[240],"Karyotype":[241],"trisomy":[244],"8":[245],"translocations":[247],"between":[248],"chromosome":[249,252],"12":[250],"22,":[253],"observed":[255],"some":[257,296],"2022":[260],"category":[264],"adverse":[266],"6":[268,272],"intermediate":[270],"favorable":[275],"1":[277],"patient.":[278],"range":[285],"overall":[287],"survival":[288,292],"(OS)":[289],"progression-free":[291],"(PFS)":[293],"times,":[294],"still":[298],"time":[302],"analysis.":[305],"Summary/Conclusion:":[306],"Our":[307],"highlights":[309],"proportion":[318],"these":[323],"stratification,":[332],"treatment.":[334],"Although":[335],"available":[341],"all":[343],"we":[345],"acknowledge":[346],"there":[348],"are":[349],"factors":[351],"affecting":[352],"outcome,":[354],"further":[356],"research":[357,378],"needed":[359,380],"validate":[361],"findings":[363],"determine":[366],"optimal":[368],"management":[369],"strategies":[370],"mutations.":[376],"Further":[377],"better":[382],"understand":[383],"role":[385],"develop":[393],"personalized":[395],"approaches":[396],"management.":[400],"Keywords:":[401],"Genomics,":[402],"Mutation":[403,405],"analysis,":[406]},"counts_by_year":[],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2023-08-22T00:00:00"}
