{"id":"https://openalex.org/W2924414697","doi":null,"title":"A genomic approach towards an understanding of clonal evolution and disease progression in Multiple Myeloma","display_name":"A genomic approach towards an understanding of clonal evolution and disease progression in Multiple Myeloma","publication_year":2018,"publication_date":"2018-01-01","ids":{"openalex":"https://openalex.org/W2924414697","mag":"2924414697"},"language":"en","primary_location":{"id":"pmh:oai:digital.library.adelaide.edu.au:2440/118089","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2440/118089","pdf_url":null,"source":{"id":"https://openalex.org/S4306401835","display_name":"Adelaide Research & Scholarship (AR&S) (University of Adelaide)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I5681781","host_organization_name":"The University of Adelaide","host_organization_lineage":["https://openalex.org/I5681781"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"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/A5059227267","display_name":"Ankit K. Dutta","orcid":"https://orcid.org/0000-0003-2535-3729","observed_orcids":["https://orcid.org/0000-0003-2535-3729"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Ankit K. Dutta","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-2535-3729","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5059227267"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"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/T10649","display_name":"Multiple Myeloma Research and Treatments","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/T10649","display_name":"Multiple Myeloma Research and Treatments","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/T11157","display_name":"Chronic Lymphocytic 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/T11287","display_name":"Cancer Genomics and Diagnostics","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/multiple-myeloma","display_name":"multiple myeloma","score":0.996999979019165},{"id":"https://openalex.org/keywords/monoclonal-gammopathy-of-undetermined-significance","display_name":"monoclonal gammopathy of undetermined significance","score":0.9779999852180481},{"id":"https://openalex.org/keywords/smoldering-multiple-myeloma","display_name":"smoldering multiple myeloma","score":0.9929999709129333},{"id":"https://openalex.org/keywords/disease-progression","display_name":"disease progression","score":0.7699999809265137},{"id":"https://openalex.org/keywords/clonal-evolution","display_name":"clonal evolution","score":0.8939999938011169},{"id":"https://openalex.org/keywords/subclonal-evolution","display_name":"subclonal evolution","score":0.7419999837875366},{"id":"https://openalex.org/keywords/clonal-heterogeneity","display_name":"clonal heterogeneity","score":0.8560000061988831},{"id":"https://openalex.org/keywords/plasma-cells","display_name":"plasma cells","score":0.597000002861023},{"id":"https://openalex.org/keywords/dna-hypomethylation","display_name":"DNA hypomethylation","score":0.7770000100135803},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.7770000100135803},{"id":"https://openalex.org/keywords/sp140","display_name":"SP140","score":0.7559999823570251},{"id":"https://openalex.org/keywords/rna-editing","display_name":"RNA editing","score":0.9409999847412109}],"concepts":[{"id":"https://openalex.org/C113968399","wikidata":"https://www.wikidata.org/wiki/Q7559241","display_name":"Somatic evolution in cancer","level":3,"score":0.6600964069366455},{"id":"https://openalex.org/C2776364478","wikidata":"https://www.wikidata.org/wiki/Q467635","display_name":"Multiple myeloma","level":2,"score":0.6194996237754822},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5174301266670227},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4755418300628662},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.43205592036247253},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.34213441610336304},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3300040066242218},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2922772169113159},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.20539364218711853},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.16296494007110596},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.13109999895095825}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:digital.library.adelaide.edu.au:2440/118089","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2440/118089","pdf_url":null,"source":{"id":"https://openalex.org/S4306401835","display_name":"Adelaide Research & Scholarship (AR&S) (University of Adelaide)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I5681781","host_organization_name":"The University of Adelaide","host_organization_lineage":["https://openalex.org/I5681781"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Thesis"},{"id":"mag:2924414697","doi":null,"is_oa":false,"landing_page_url":"https://digital.library.adelaide.edu.au/dspace/bitstream/2440/118089/3/Dutta2018_PhD.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3092899955","https://openalex.org/W2882975044","https://openalex.org/W4226237675","https://openalex.org/W2511571730","https://openalex.org/W2490543091","https://openalex.org/W2058555823","https://openalex.org/W2589063300","https://openalex.org/W2610839712","https://openalex.org/W3213175207","https://openalex.org/W2980240776"],"abstract_inverted_index":{"Multiple":[0,76],"myeloma":[1],"(MM)":[2],"is":[3,45,453],"a":[4,86,108,155,187,312,427],"largely":[5],"incurable":[6],"haematological":[7],"malignancy":[8],"characterised":[9,185],"by":[10,186,194,238],"the":[11,20,52,60,63,90,98,105,148,172,198,208,216,256,287,305,323,356,379,398,440,447,456,469],"aberrant":[12],"proliferation":[13],"of":[14,50,67,70,89,101,107,111,152,158,174,190,202,218,255,289,307,342,358,397,407,442,451,459],"malignant":[15],"plasma":[16],"cells":[17],"(PCs)":[18],"in":[19,271,310,316,322,339,345,355,388,426,476,496],"bone":[21],"marrow":[22],"(BM).":[23],"Next":[24],"generation":[25],"sequencing":[26,136,212,265],"(NGS)":[27],"studies":[28,419,481],"have":[29],"shown":[30],"that":[31,142,215,234,362,405,421,424,465,483],"MM":[32,80,130,183,203,224,301,318,325,366,391,452],"patients":[33,116],"display":[34],"complex":[35,436],"mutational":[36],"landscapes":[37],"involving":[38],"intraclonal":[39,43],"genetic":[40],"heterogeneity.":[41],"While":[42],"heterogeneity":[44,144],"now":[46],"an":[47,346,473],"established":[48],"feature":[49],"MM,":[51],"genomic":[53,91,449],"changes":[54],"and":[55,74,93,138,280,300,401,462,494],"tumour":[56,470],"evolution":[57,95,192],"associated":[58,96,161],"with":[59,97,104,120,154,162,171,248,296],"transformation":[61,443],"from":[62,115,468],"asymptomatic":[64,149,457],"disease":[65,102,276,460],"stages":[66,151,277,458],"Monoclonal":[68],"Gammopathy":[69],"Undetermined":[71],"Significance":[72],"(MGUS)":[73],"Smouldering":[75],"Myeloma":[77],"(SMM)":[78],"to":[79,128,164,177,182,223,227,283,298,353,365,378,432,437,444,491],"remains":[81],"unknown.":[82],"This":[83],"thesis":[84],"presents":[85],"unique":[87],"assessment":[88],"architecture":[92],"subclonal":[94,191],"natural":[99],"history":[100],"transformation,":[103],"analyses":[106,140],"rare":[109],"cohort":[110],"paired":[112],"BM":[113],"samples":[114],"when":[117],"first":[118],"diagnosed":[119],"MGUS":[121,293],"or":[122],"SMM,":[123],"who":[124],"later":[125],"went":[126],"on":[127,439],"develop":[129],"(n":[131],"=":[132],"10).":[133],"Whole":[134],"exome":[135],"(WES)":[137],"bioinformatic":[139],"identified":[141,237,338],"clonal":[143,195],"was":[145,167,184,258,269,294,320,337,351,375,385],"present":[146,206,454],"at":[147,169,207,221,245,274,292,455,486],"MGUS/SMM":[150,209,222,422,487],"disease,":[153],"changing":[156],"spectrum":[157],"acquired":[159],"mutations":[160],"transition":[163],"MM.":[165,445],"Subclonality":[166],"observed":[168,270,291,387],"MGUS/SMM,":[170],"presence":[173],"between":[175],"5":[176],"11":[178],"subclones.":[179],"The":[180],"progression":[181,297,493],"prevailing":[188],"model":[189],"defined":[193],"stability,":[196],"where":[197],"transformed":[199],"PC":[200,326,392],"subclones":[201],"were":[204,225,240,411],"already":[205],"stage.":[210],"RNA":[211,308,334,373,415],"(RNAseq)":[213],"revealed":[214,233],"patterns":[217],"expressed":[219,244],"genes":[220,236,250],"found":[226],"be":[228,433,438,489],"relatively":[229],"homogeneous.":[230],"Moreover,":[231],"RNAseq":[232],"mutant":[235],"WES":[239],"generally":[241],"not":[242,376,386],"expressed,":[243],"low":[246],"levels,":[247],"most":[249],"showing":[251],"wild-type":[252],"expression.":[253],"Analysis":[254],"methylome":[257],"carried":[259],"out":[260],"using":[261],"whole":[262],"genome":[263],"bisulphite":[264],"(WGBS).":[266],"Significant":[267],"hypomethylation":[268,290],"PCs":[272],"recovered":[273],"all":[275],"(MGUS,":[278],"SMM":[279,299],"MM)":[281],"compared":[282],"normal":[284],"PCs.":[285],"Interestingly,":[286],"degree":[288],"maintained":[295],"stages.":[302],"In":[303,368],"addition,":[304],"phenomenon":[306],"editing":[309,335,374,384,416],"SP140,":[311],"recurrently":[313],"mutated":[314],"gene":[315],"human":[317,390],"patients,":[319,423],"investigated":[321],"5TGM1":[324,380],"line.":[327],"A":[328],"high":[329],"impact":[330],"C>T":[331],"(ie.":[332],"U)":[333],"change":[336],"exon":[340],"2":[341],"Sp140,":[343],"resulting":[344],"early":[347,484],"STOP":[348],"codon,":[349],"which":[350],"hypothesised":[352],"result":[354,495],"formation":[357],"truncated":[359],"Sp140":[360,372],"protein":[361],"may":[363,488],"contribute":[364],"pathogenesis.":[367],"mouse":[369,399],"cell":[370,381],"lines,":[371],"restricted":[377],"line,":[382],"but":[383],"any":[389],"lines.":[393],"CRISPR-Cas9":[394],"mediated":[395],"mutation":[396],"Apobec1":[400],"Apobec3":[402],"genes,":[403],"showed":[404],"neither":[406],"these":[408,480],"cytidine":[409],"deaminases":[410],"responsible":[412],"for":[413,499],"this":[414],"phenomenon.":[417],"These":[418],"show":[420],"progress":[425],"short":[428],"time":[429],"frame,":[430],"appear":[431],"sufficiently":[434],"genetically":[435],"threshold":[441],"Furthermore,":[446],"intrinsic":[448],"complexity":[450],"(MGUS":[461],"SMM),":[463],"suggesting":[464],"extrinsic":[466],"factors":[467],"microenvironment":[471],"play":[472],"important":[474],"role":[475],"mediating":[477],"progression.":[478],"Indeed,":[479],"suggest":[482],"intervention":[485],"possible":[490],"prevent":[492],"durable":[497],"cure":[498],"patients.":[500]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2019-04-01T00:00:00"}