{"id":"https://openalex.org/W7204562295","doi":"https://doi.org/10.3343/alm.2026.0064","title":"Incidental Constitutional Chromosomal Abnormalities Identified in Bone Marrow Chromosome Analysis: A Large-Scale Retrospective Study of 29,733 Individuals","display_name":"Incidental Constitutional Chromosomal Abnormalities Identified in Bone Marrow Chromosome Analysis: A Large-Scale Retrospective Study of 29,733 Individuals","publication_year":2026,"publication_date":"2026-08-28","ids":{"openalex":"https://openalex.org/W7204562295","doi":"https://doi.org/10.3343/alm.2026.0064","pmid":"https://pubmed.ncbi.nlm.nih.gov/42661590"},"language":"en","primary_location":{"id":"doi:10.3343/alm.2026.0064","doi":"https://doi.org/10.3343/alm.2026.0064","is_oa":true,"landing_page_url":"https://doi.org/10.3343/alm.2026.0064","pdf_url":null,"source":{"id":"https://openalex.org/S4210169500","display_name":"Annals of Laboratory Medicine","issn_l":"2234-3806","issn":["2234-3806","2234-3814"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","medline"],"host_organization":"https://openalex.org/P4310319466","host_organization_name":"Seoul National University","host_organization_lineage":["https://openalex.org/P4310319466"],"host_organization_lineage_names":["Seoul National University"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Laboratory Medicine","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://doi.org/10.3343/alm.2026.0064","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5007674430","display_name":"Jaeryuk Kim","orcid":"https://orcid.org/0000-0001-5382-9830","observed_orcids":["https://orcid.org/0000-0001-5382-9830"]},"institutions":[{"id":"https://openalex.org/I2801680663","display_name":"Asan Medical Center","ror":"https://ror.org/03s5q0090","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2801680663","https://openalex.org/I4210167194"]},{"id":"https://openalex.org/I40542001","display_name":"University of Ulsan","ror":"https://ror.org/02c2f8975","country_code":"KR","type":"education","lineage":["https://openalex.org/I40542001"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Jaeryuk Kim","raw_affiliation_strings":["Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea"],"raw_orcid":"https://orcid.org/0000-0001-5382-9830","affiliations":[{"raw_affiliation_string":"Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea","institution_ids":["https://openalex.org/I2801680663","https://openalex.org/I40542001"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050880690","display_name":"Eul\u2010Ju Seo","orcid":"https://orcid.org/0000-0002-8247-3746","observed_orcids":["https://orcid.org/0000-0002-8247-3746"]},"institutions":[{"id":"https://openalex.org/I2801680663","display_name":"Asan Medical Center","ror":"https://ror.org/03s5q0090","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I2801680663","https://openalex.org/I4210167194"]},{"id":"https://openalex.org/I40542001","display_name":"University of Ulsan","ror":"https://ror.org/02c2f8975","country_code":"KR","type":"education","lineage":["https://openalex.org/I40542001"]}],"countries":["KR"],"is_corresponding":true,"raw_author_name":"Eul-Ju Seo","raw_affiliation_strings":["Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea","Medical Genetics and Genomics Center, Asan Medical Center, Seoul, Korea"],"raw_orcid":"https://orcid.org/0000-0002-8247-3746","affiliations":[{"raw_affiliation_string":"Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea","institution_ids":["https://openalex.org/I2801680663","https://openalex.org/I40542001"]},{"raw_affiliation_string":"Medical Genetics and Genomics Center, Asan Medical Center, Seoul, Korea","institution_ids":["https://openalex.org/I2801680663"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5050880690"],"corresponding_institution_ids":["https://openalex.org/I2801680663","https://openalex.org/I40542001"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.70286926,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.7764000296592712,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.7764000296592712,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.04729999974370003,"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":0.04100000113248825,"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/constitutional-chromosomal-abnormalities","display_name":"constitutional chromosomal abnormalities","score":0.9890000224113464},{"id":"https://openalex.org/keywords/incidental-finding","display_name":"incidental finding","score":0.8100000023841858},{"id":"https://openalex.org/keywords/bone-marrow-cytogenetics","display_name":"bone marrow cytogenetics","score":0.9010000228881836},{"id":"https://openalex.org/keywords/hematologic-malignancies","display_name":"hematologic malignancies","score":0.746999979019165},{"id":"https://openalex.org/keywords/prognostic-assessment","display_name":"prognostic assessment","score":0.6620000004768372},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.5889999866485596},{"id":"https://openalex.org/keywords/cytogenetic-risk-classification","display_name":"cytogenetic risk classification","score":0.7670000195503235}],"concepts":[{"id":"https://openalex.org/C2780007613","wikidata":"https://www.wikidata.org/wiki/Q546523","display_name":"Bone marrow","level":2,"score":0.5692999958992004},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5127000212669373},{"id":"https://openalex.org/C2780189214","wikidata":"https://www.wikidata.org/wiki/Q744962","display_name":"Chromosome abnormality","level":5,"score":0.5123999714851379},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.5080000162124634},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5076000094413757},{"id":"https://openalex.org/C167135981","wikidata":"https://www.wikidata.org/wiki/Q2146302","display_name":"Retrospective cohort study","level":2,"score":0.4952999949455261},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.4659999907016754},{"id":"https://openalex.org/C174475383","wikidata":"https://www.wikidata.org/wiki/Q246128","display_name":"Cytogenetics","level":4,"score":0.43230000138282776},{"id":"https://openalex.org/C134305767","wikidata":"https://www.wikidata.org/wiki/Q725508","display_name":"Somatic cell","level":3,"score":0.4207000136375427},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.35120001435279846},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.34630000591278076},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3239000141620636},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.319599986076355},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.31139999628067017},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.3061999976634979},{"id":"https://openalex.org/C109748351","wikidata":"https://www.wikidata.org/wiki/Q657319","display_name":"Chromosome 7 (human)","level":4,"score":0.2973000109195709},{"id":"https://openalex.org/C2910665220","wikidata":"https://www.wikidata.org/wiki/Q246128","display_name":"Chromosomal analysis","level":5,"score":0.29109999537467957},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.2904999852180481},{"id":"https://openalex.org/C86546924","wikidata":"https://www.wikidata.org/wiki/Q3454460","display_name":"Chromosomal rearrangement","level":5,"score":0.28850001096725464},{"id":"https://openalex.org/C2992684800","wikidata":"https://www.wikidata.org/wiki/Q246128","display_name":"Chromosome analysis","level":5,"score":0.2782000005245209},{"id":"https://openalex.org/C2777753580","wikidata":"https://www.wikidata.org/wiki/Q1441305","display_name":"Constitutional symptoms","level":3,"score":0.2712000012397766},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.26159998774528503},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.25929999351501465},{"id":"https://openalex.org/C2778461978","wikidata":"https://www.wikidata.org/wiki/Q29496","display_name":"Leukemia","level":2,"score":0.25529998540878296},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.2531000077724457}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.3343/alm.2026.0064","doi":"https://doi.org/10.3343/alm.2026.0064","is_oa":true,"landing_page_url":"https://doi.org/10.3343/alm.2026.0064","pdf_url":null,"source":{"id":"https://openalex.org/S4210169500","display_name":"Annals of Laboratory Medicine","issn_l":"2234-3806","issn":["2234-3806","2234-3814"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","medline"],"host_organization":"https://openalex.org/P4310319466","host_organization_name":"Seoul National University","host_organization_lineage":["https://openalex.org/P4310319466"],"host_organization_lineage_names":["Seoul National University"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Laboratory Medicine","raw_type":"journal-article"},{"id":"pmid:42661590","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42661590","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":"Annals of laboratory medicine","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.3343/alm.2026.0064","doi":"https://doi.org/10.3343/alm.2026.0064","is_oa":true,"landing_page_url":"https://doi.org/10.3343/alm.2026.0064","pdf_url":null,"source":{"id":"https://openalex.org/S4210169500","display_name":"Annals of Laboratory Medicine","issn_l":"2234-3806","issn":["2234-3806","2234-3814"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","medline"],"host_organization":"https://openalex.org/P4310319466","host_organization_name":"Seoul National University","host_organization_lineage":["https://openalex.org/P4310319466"],"host_organization_lineage_names":["Seoul National University"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Laboratory Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9537000060081482,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"score":0.7076864242553711,"display_name":"Reduced inequalities","id":"https://metadata.un.org/sdg/10"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":[],"abstract_inverted_index":{"Background:":[0],"Constitutional":[1],"chromosomal":[2,32,134],"abnormalities":[3,33,54,122,135,139],"detected":[4],"during":[5,44],"bone":[6],"marrow":[7],"(BM)":[8],"chromosome":[9,41],"analysis":[10],"may":[11],"be":[12],"misclassified":[13],"as":[14,56,79],"acquired":[15],"abnormalities.":[16],"Although":[17,131],"incidental":[18,30,120,132],"findings":[19,65],"identified":[20],"through":[21],"somatic":[22],"tissue":[23],"testing":[24,91,97],"are":[25,136,154],"increasingly":[26],"recognized,":[27],"data":[28],"on":[29,59],"constitutional":[31,69,121,133],"remain":[34],"limited.":[35],"Methods:":[36],"We":[37],"retrospectively":[38],"reviewed":[39],"BM":[40,63],"studies":[42],"performed":[43],"1999-2025":[45],"at":[46,85],"Asan":[47],"Medical":[48],"Center,":[49],"encompassing":[50],"29,733":[51],"individuals.":[52],"Chromosomal":[53],"reported":[55],"constitutional,":[57],"based":[58],"germline":[60],"confirmation":[61,153],"or":[62],"cytogenetic":[64,82,124],"strongly":[66],"suggesting":[67],"a":[68],"origin,":[70],"were":[71,77,92,112],"included.":[72],"Cases":[73],"without":[74],"clinical":[75,146],"recognition":[76,150],"classified":[78],"incidental.":[80],"The":[81],"spectrum,":[83],"age":[84],"detection,":[86],"prognostic":[87,142],"impact,":[88],"and":[89,144,151],"follow-up":[90],"analyzed.":[93],"Results:":[94],"<0.001).":[95],"Family":[96],"was":[98],"infrequently":[99],"performed,":[100],"occurring":[101],"in":[102,127],"five":[103,128],"of":[104,110,119],"15":[105],"germline-confirmed":[106],"cases":[107],"(33.3%),":[108],"all":[109],"whom":[111],"pediatric":[113],"patients.":[114],"In":[115],"hematologic":[116],"malignancies,":[117],"inclusion":[118],"altered":[123],"risk":[125],"classification":[126],"cases.":[129],"Conclusions:":[130],"rare,":[137],"these":[138],"can":[140],"influence":[141],"assessment":[143],"downstream":[145],"management.":[147],"Therefore,":[148],"accurate":[149],"appropriate":[152],"essential":[155],"for":[156],"optimal":[157],"interpretation.":[158]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2026-08-29T00:00:00"}