{"id":"https://openalex.org/W99422002","doi":null,"title":"Concomitant loss of chromosome 3 and whole arm losses and gains of chromosome 1, 6, or 8 in metastasizing primary uveal melanoma.","display_name":"Concomitant loss of chromosome 3 and whole arm losses and gains of chromosome 1, 6, or 8 in metastasizing primary uveal melanoma.","publication_year":2001,"publication_date":"2001-02-01","ids":{"openalex":"https://openalex.org/W99422002","mag":"99422002","pmid":"https://pubmed.ncbi.nlm.nih.gov/11157859"},"language":"en","primary_location":{"id":"pmid:11157859","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11157859","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":"Investigative ophthalmology & visual science","raw_type":"Comparative Study"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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":"Y Aalto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I2800394112","display_name":"Helsinki University Hospital","ror":"https://ror.org/02e8hzf44","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I2800394112","https://openalex.org/I4210166427"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Y Aalto","raw_affiliation_strings":["Department of Medical Genetics, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Finland","institution_ids":["https://openalex.org/I133731052","https://openalex.org/I2800394112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109815261","display_name":"Lotta Eriksson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210135386","display_name":"S:t Eriks \u00d6gonsjukhus","ror":"https://ror.org/03z5b5h37","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I4210135386"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"L Eriksson","raw_affiliation_strings":["St. Erik\u2019s Eye Hospital, Stockholm, Sweden; and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"St. Erik\u2019s Eye Hospital, Stockholm, Sweden; and","institution_ids":["https://openalex.org/I4210135386"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069676697","display_name":"Stefan Seregard","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210135386","display_name":"S:t Eriks \u00d6gonsjukhus","ror":"https://ror.org/03z5b5h37","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I4210135386"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"S Seregard","raw_affiliation_strings":["St. Erik\u2019s Eye Hospital, Stockholm, Sweden; and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"St. Erik\u2019s Eye Hospital, Stockholm, Sweden; and","institution_ids":["https://openalex.org/I4210135386"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067670855","display_name":"Olle Larsson","orcid":"https://orcid.org/0000-0001-8173-2956","observed_orcids":["https://orcid.org/0000-0001-8173-2956"]},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"O Larsson","raw_affiliation_strings":["Molecular and Cellular Tumor Pathology, Department of Oncology and Pathology, Karolinska Hospital, Stockholm, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular and Cellular Tumor Pathology, Department of Oncology and Pathology, Karolinska Hospital, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5019040135","display_name":"Sakari Knuutila","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I2800394112","display_name":"Helsinki University Hospital","ror":"https://ror.org/02e8hzf44","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I2800394112","https://openalex.org/I4210166427"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"S Knuutila","raw_affiliation_strings":["From the Department of Medical Genetics, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Finland;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Medical Genetics, Haartman Institute and Helsinki University Central Hospital, University of Helsinki, Finland;","institution_ids":["https://openalex.org/I133731052","https://openalex.org/I2800394112"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":5.4222,"has_fulltext":false,"cited_by_count":192,"citation_normalized_percentile":{"value":0.95389181,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":100},"biblio":{"volume":"42","issue":"2","first_page":"313","last_page":"7"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11328","display_name":"Ocular Oncology and Treatments","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T11328","display_name":"Ocular Oncology and Treatments","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T12989","display_name":"Ocular Disorders and Treatments","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T11194","display_name":"Ocular Diseases and Beh\u00e7et\u2019s Syndrome","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/uveal-melanoma","display_name":"uveal melanoma","score":0.9959999918937683},{"id":"https://openalex.org/keywords/metastasis","display_name":"metastasis","score":0.8679999709129333},{"id":"https://openalex.org/keywords/chromosome-3-loss","display_name":"chromosome 3 loss","score":0.875},{"id":"https://openalex.org/keywords/chromosome-6q-loss","display_name":"chromosome 6q loss","score":0.7210000157356262},{"id":"https://openalex.org/keywords/chromosome-8q-gain","display_name":"chromosome 8q gain","score":0.9599999785423279},{"id":"https://openalex.org/keywords/copy-number-alterations","display_name":"copy number alterations","score":0.7020000219345093},{"id":"https://openalex.org/keywords/chromosome-1p-loss","display_name":"chromosome 1p deletion","score":0.6790000200271606},{"id":"https://openalex.org/keywords/chromosome-13q-loss","display_name":"chromosome 13q loss","score":0.8899999856948853},{"id":"https://openalex.org/keywords/chromosome-18-loss","display_name":"chromosome 18 loss","score":0.9110000133514404},{"id":"https://openalex.org/keywords/tumor-suppressor-genes","display_name":"tumor suppressor","score":0.765999972820282},{"id":"https://openalex.org/keywords/overall-survival","display_name":"overall survival","score":0.5379999876022339},{"id":"https://openalex.org/keywords/tumor-progression","display_name":"tumor progression","score":0.7440000176429749}],"concepts":[{"id":"https://openalex.org/C2777658100","wikidata":"https://www.wikidata.org/wiki/Q180614","display_name":"Melanoma","level":2,"score":0.7845056653022766},{"id":"https://openalex.org/C124942203","wikidata":"https://www.wikidata.org/wiki/Q656638","display_name":"Comparative genomic hybridization","level":4,"score":0.6854989528656006},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.6093502640724182},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5753172636032104},{"id":"https://openalex.org/C2780283643","wikidata":"https://www.wikidata.org/wiki/Q2110267","display_name":"Primary tumor","level":4,"score":0.543620765209198},{"id":"https://openalex.org/C47924181","wikidata":"https://www.wikidata.org/wiki/Q668633","display_name":"Chromosome 3","level":4,"score":0.5258926749229431},{"id":"https://openalex.org/C2779013556","wikidata":"https://www.wikidata.org/wiki/Q181876","display_name":"Metastasis","level":3,"score":0.4874753952026367},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.41948190331459045},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.400201678276062},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.33053386211395264},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.3174211084842682},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.27929532527923584},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.13070550560951233}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000369","descriptor_name":"Aged, 80 and over","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002878","descriptor_name":"Chromosomes, Human, Pair 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002893","descriptor_name":"Chromosomes, Human, Pair 3","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002896","descriptor_name":"Chromosomes, Human, Pair 6","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002898","descriptor_name":"Chromosomes, Human, Pair 8","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004273","descriptor_name":"DNA, Neoplasm","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D008113","descriptor_name":"Liver Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008113","descriptor_name":"Liver Neoplasms","qualifier_ui":"Q000556","qualifier_name":"secondary","is_major_topic":false},{"descriptor_ui":"D008175","descriptor_name":"Lung Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008175","descriptor_name":"Lung Neoplasms","qualifier_ui":"Q000556","qualifier_name":"secondary","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008545","descriptor_name":"Melanoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008545","descriptor_name":"Melanoma","qualifier_ui":"Q000556","qualifier_name":"secondary","is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009693","descriptor_name":"Nucleic Acid Hybridization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014604","descriptor_name":"Uveal Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014604","descriptor_name":"Uveal Neoplasms","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D018628","descriptor_name":"Gene Dosage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:11157859","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11157859","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":"Investigative ophthalmology & visual science","raw_type":"Comparative Study"},{"id":"mag:99422002","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11157859","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9476000070571899}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":18,"referenced_works":["https://openalex.org/W1512977451","https://openalex.org/W1516721515","https://openalex.org/W1521892020","https://openalex.org/W1614769926","https://openalex.org/W1629447107","https://openalex.org/W1974715203","https://openalex.org/W1975679429","https://openalex.org/W1976587022","https://openalex.org/W1978731309","https://openalex.org/W2001059662","https://openalex.org/W2039327658","https://openalex.org/W2040316588","https://openalex.org/W2074809432","https://openalex.org/W2083355392","https://openalex.org/W2107969863","https://openalex.org/W2118094114","https://openalex.org/W2169392527","https://openalex.org/W2409304774"],"related_works":["https://openalex.org/W1614769926","https://openalex.org/W1994581022","https://openalex.org/W2013357376","https://openalex.org/W2157070790","https://openalex.org/W2028027318","https://openalex.org/W3207087722","https://openalex.org/W1978376074","https://openalex.org/W3213060911","https://openalex.org/W1629447107","https://openalex.org/W2116625737"],"abstract_inverted_index":{"PURPOSE:":[0],"To":[1],"elucidate":[2],"the":[3,68,109,155,255],"genetic":[4,121],"differences":[5],"between":[6,145],"metastasizing":[7,149],"and":[8,50,81,83,91,108,130,151,200,213,239,275],"nonmetastasizing":[9,147],"primary":[10,36,44,59,137,146,233],"tumors,":[11,148,150],"uveal":[12,37,45,60,125,138,234],"melanoma":[13],"samples":[14],"were":[15,32,55,93,101,162,217,229],"screened":[16],"for":[17],"DNA":[18,28,76,85,158],"copy":[19,29,159],"number":[20,30,160],"alterations":[21],"by":[22],"comparative":[23],"genomic":[24],"hybridization":[25],"(CGH).":[26],"METHODS:":[27],"changes":[31,135,161],"studied":[33],"on":[34,51,65],"14":[35],"melanomas":[38,46,126,139,235],"that":[39,47,54,127,140,154,236,244],"had":[40,48,128,132,141,237],"not":[41,142],"metastasized,":[42,49],"15":[43],"6":[52,58],"metastases":[53,131,152],"available":[56],"from":[57],"melanomas.":[61],"CGH":[62],"is":[63],"based":[64],"quantitation":[66],"of":[67,71,120,207,211,215,227,260,269],"fluorescence":[69,106],"intensity":[70],"differentially":[72],"labeled":[73,77,86],"DNAs.":[74],"Tumor":[75],"with":[78,87,220,266],"FITC":[79],"dCTP":[80,90],"dUTP":[82,92],"normal":[84,96],"Texas":[88],"red":[89],"hybridized":[94],"to":[95,115],"metaphase":[97],"chromosomes.":[98],"The":[99],"hybridizations":[100],"analyzed":[102],"using":[103],"an":[104],"Olympus":[105],"microscope":[107],"ISIS":[110],"digital":[111],"image":[112],"analysis":[113],"system":[114],"identify":[116],"gain":[117,214],"or":[118],"loss":[119,210,259],"material.":[122],"RESULTS:":[123],"Primary":[124],"metastasized":[129,238],"significantly":[133,218],"more":[134],"than":[136],"metastasized.":[143],"Comparison":[144],"showed":[153],"most":[156],"common":[157],"-3":[163],"(21%,":[164],"73%,":[165],"67%,":[166],"respectively),":[167],"-6q":[168],"(7%,":[169,185],"40%,":[170],"83%),":[171],"-1p":[172],"(0,":[173,197,202],"33%,":[174],"33%),":[175,187,199],"-13q":[176],"(14%,":[177,181,189],"13%,":[178,186],"50%),":[179],"-8p":[180],"27%,":[182],"0),":[183],"-18":[184],"+8q":[188],"53%,":[190],"100%),":[191],"+6p":[192],"(29%,":[193],"20%,":[194],"17%),":[195],"+1q":[196],"7%,":[198,203],"+16p":[201],"33%).":[204],"CONCLUSIONS:":[205],"Loss":[206],"chromosome":[208,261],"3,":[209],"6q,":[212],"8q":[216],"associated":[219,265],"poor":[221],"overall":[222],"survival.":[223],"In":[224],"addition,":[225],"losses":[226],"1p":[228],"only":[230],"found":[231],"in":[232,240,254],"metastases,":[241],"which":[242],"suggests":[243],"this":[245],"region":[246],"may":[247,263],"harbor":[248],"a":[249],"tumor":[250,256],"suppressor":[251],"gene":[252],"important":[253],"progression.":[257],"Finally,":[258],"3":[262],"be":[264],"isochromosome":[267],"formation":[268],"1q,":[270],"6p,":[271],"8q,":[272],"16p,":[273],"20q,":[274],"22q.":[276]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":7},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":10},{"year":2018,"cited_by_count":9},{"year":2017,"cited_by_count":12},{"year":2016,"cited_by_count":16},{"year":2015,"cited_by_count":11},{"year":2014,"cited_by_count":7},{"year":2013,"cited_by_count":9},{"year":2012,"cited_by_count":8}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
