2025
Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature
Bosticardo M, Dobbs K, Delmonte O, Martins A, Pala F, Kawai T, Kenney H, Magro G, Rosen L, Yamazaki Y, Yu H, Calzoni E, Lee Y, Liu C, Stoddard J, Niemela J, Fink D, Castagnoli R, Ramba M, Cheng A, Riley D, Oikonomou V, Shaw E, Belaid B, Keles S, Al-Herz W, Cancrini C, Cifaldi C, Baris S, Sharapova S, Schuetz C, Gennery A, Freeman A, Somech R, Choo S, Giliani S, Güngör T, Drozdov D, Meyts I, Moshous D, Neven B, Abraham R, El-Marsafy A, Kanariou M, King A, Licciardi F, Cruz-Muñoz M, Palma P, Poli C, Adeli M, Algeri M, Alroqi F, Bastard P, Bergerson J, Booth C, Brett A, Burns S, Butte M, Padem N, de la Morena M, Dbaibo G, de Ravin S, Dimitrova D, Djidjik R, Dorna M, Dutmer C, Elfeky R, Facchetti F, Fuleihan R, Geha R, Gonzalez-Granado L, Haljasmägi L, Ale H, Hayward A, Hifanova A, Ip W, Kaplan B, Kapoor N, Karakoc-Aydiner E, Kärner J, Keller M, Dávila Saldaña B, Kiykim A, Kuijpers T, Kuznetsova E, Latysheva E, Leiding J, Locatelli F, Alva-Lozada G, McCusker C, Celmeli F, Morsheimer M, Ozen A, Parvaneh N, Pasic S, Plebani A, Preece K, Prockop S, Sakovich I, Starkova E, Torgerson T, Verbsky J, Walter J, Ward B, Wisner E, Draper D, Myint-Hpu K, Truong P, Lionakis M, Similuk M, Walkiewicz M, Klion A, Holland S, Oguz C, Bogunovic D, Kisand K, Su H, Tsang J, Kuhns D, Villa A, Rosenzweig S, Pittaluga S, Notarangelo L, Ghosh R, Siefert B, Tokita M, Yan J, Jodarski C, Kamen M, Gore R, Reynolds-Lallement N, Lewis K, Bannon S, Borges A, Gentile N. Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature. Science Immunology 2025, 10: eadq1697. PMID: 39792639, DOI: 10.1126/sciimmunol.adq1697.Peer-Reviewed Original ResearchConceptsRAG deficiencyRecombination-activating geneImmune dysregulationInflammatory signaturePattern of immune dysregulationT helper 2B cell developmentType I interferonOmenn syndromeImmunological phenotypeImmune profileSelf-antigensB cellsClinical managementDefective TI interferonCellular indicesImmunopathologyPatientsMultiomics approachPhenotypeHypomorphic formDysregulationLineage-specific contributionsDeficiency
2024
A role for the kinetochore protein, NUF2, in ribosome biogenesis.
Brown T, Pichurin J, Parrado C, Kabeche L, Baserga S. A role for the kinetochore protein, NUF2, in ribosome biogenesis. Molecular Biology Of The Cell 2024, 36: ar16. PMID: 39705402, PMCID: PMC11809303, DOI: 10.1091/mbc.e24-08-0337.Peer-Reviewed Original ResearchConceptsPre-rRNA transcriptionNucleolar stress pathwayRibosome biogenesisPre-rRNASiRNA depletionSubunit of RNA polymerase IGenome-wide siRNA screenMCF10A human breast epithelial cellsRNA polymerase IHuman breast epithelial cellsBreast epithelial cellsKinetochore proteinsMitotic kinetochoresEukaryotic cellsPolymerase ISiRNA screenProtein partnersNUF2Sub-complexCell-based assaysProtein componentsRibosomeStress pathwaysTranscriptionProteinIdentification of coilin interactors reveals coordinated control of Cajal body number and structure
Escayola D, Zhang C, Nischwitz E, Schärfen L, Dörner K, Straube K, Kutay U, Butter F, Neugebauer K. Identification of coilin interactors reveals coordinated control of Cajal body number and structure. Journal Of Cell Biology 2024, 224: e202305081. PMID: 39602297, PMCID: PMC11602656, DOI: 10.1083/jcb.202305081.Peer-Reviewed Original ResearchConceptsCajal bodiesSurvival motor neuron proteinCB assemblyModulating posttranslational modificationsRegulate RNA processingProtein interactorsProximity biotinylationRNA processingGenetic lociPosttranslational modificationsGene activationTranscription factorsFunctional screeningBiomolecular condensatesCoilinNeuronal proteinsCell nucleiProteinNuclear levelsNuclear positivityCB componentsCB numberBody numberAssemblyRibosomeSRF SUMOylation modulates smooth muscle phenotypic switch and vascular remodeling
Xu Y, Zhang H, Chen Y, Pober J, Zhou M, Zhou J, Min W. SRF SUMOylation modulates smooth muscle phenotypic switch and vascular remodeling. Nature Communications 2024, 15: 6919. PMID: 39134547, PMCID: PMC11319592, DOI: 10.1038/s41467-024-51350-5.Peer-Reviewed Original ResearchConceptsVascular smooth muscle cellsSerum response factorCardiovascular diseaseVSMC synthetic phenotypeVascular remodelingNeointimal formationSENP1 deficiencySerum response factor activitySmooth muscle phenotypic switchingPhenotypic switchingPathogenesis of cardiovascular diseaseSmooth muscle cellsPost-translational SUMOylationTreatment of cardiovascular diseasesInhibitor AZD6244Phospho-ELK1Increased nuclear accumulationLysosomal localizationGene transcriptionNuclear accumulationMuscle cellsCoronary arteryCVD patientsVSMC phenotypic switchTherapeutic potentialSWI/SNF Complex-Deficient Undifferentiated Carcinoma of the Pancreas: Clinicopathologic and Genomic Analysis
Yavas A, Ozcan K, Adsay N, Balci S, Tarcan Z, Hechtman J, Luchini C, Scarpa A, Lawlor R, Mafficini A, Reid M, Xue Y, Yang Z, Haye K, Bellizzi A, Vanoli A, Benhamida J, Balachandran V, Jarnagin W, Park W, O'Reilly E, Klimstra D, Basturk O. SWI/SNF Complex-Deficient Undifferentiated Carcinoma of the Pancreas: Clinicopathologic and Genomic Analysis. Modern Pathology 2024, 37: 100585. PMID: 39094734, PMCID: PMC11585460, DOI: 10.1016/j.modpat.2024.100585.Peer-Reviewed Original ResearchConceptsPancreatic ductal adenocarcinomaUndifferentiated carcinomaConventional pancreatic ductal adenocarcinomaSMARCB1 protein expressionPancreatic undifferentiated carcinomaProtein expressionPD-L1SMARCB1 deletionRhabdoid morphologyPD-L1 protein expressionCase of undifferentiated carcinomaNext-generation sequencingCombined positive scoreLoss of SMARCB1 protein expressionKRAS wild typeNegative prognostic impactChromatin remodeling complex subunitMultiple tumor typesPrognostic impactTumor characteristicsOverall survivalSWI/SNF deficiencyTumor groupGene alterationsInactivating alterationsPRMT6 facilitates EZH2 protein stability by inhibiting TRAF6-mediated ubiquitination degradation to promote glioblastoma cell invasion and migration
Wang J, Shen S, You J, Wang Z, Li Y, Chen Y, Tuo Y, Chen D, Yu H, Zhang J, Wang F, Pang X, Xiao Z, Lan Q, Wang Y. PRMT6 facilitates EZH2 protein stability by inhibiting TRAF6-mediated ubiquitination degradation to promote glioblastoma cell invasion and migration. Cell Death & Disease 2024, 15: 524. PMID: 39043634, PMCID: PMC11266590, DOI: 10.1038/s41419-024-06920-2.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBrain NeoplasmsCell Line, TumorCell MovementEnhancer of Zeste Homolog 2 ProteinFemaleGene Expression Regulation, NeoplasticGlioblastomaHumansMaleMiceMice, Inbred BALB CMice, NudeNeoplasm InvasivenessNuclear ProteinsProtein StabilityProtein-Arginine N-MethyltransferasesProteolysisTNF Receptor-Associated Factor 6UbiquitinationConceptsProtein arginine methyltransferase 6Glioblastoma cell invasionStability of EZH2Protein stabilityCell invasionOverexpression of PRMT6Inhibited glioblastoma cell invasionGlioblastoma cellsEZH2 protein stabilityHistone methylation marksMigration of glioblastoma cellsHallmarks of cancerProliferation of glioblastoma cellsMethylation marksTumor cell invasionEpigenetic regulationGlioblastoma cells in vivoBioinformatics analysisMigration in vitroRegulatory relationshipsEZH2 proteinUbiquitination degradationProteinCells in vivoTRAF6Subunit-specific analysis of cohesin-mutant myeloid malignancies reveals distinct ontogeny and outcomes
Jann J, Hergott C, Winkler M, Liu Y, Braun B, Charles A, Copson K, Barua S, Meggendorfer M, Nadarajah N, Shimony S, Winer E, Wadleigh M, Stone R, DeAngelo D, Garcia J, Haferlach T, Lindsley R, Luskin M, Stahl M, Tothova Z. Subunit-specific analysis of cohesin-mutant myeloid malignancies reveals distinct ontogeny and outcomes. Leukemia 2024, 38: 1992-2002. PMID: 39033241, PMCID: PMC11347381, DOI: 10.1038/s41375-024-02347-y.Peer-Reviewed Original ResearchConceptsAcute myeloid leukemiaDana-Farber Cancer InstituteMyelodysplastic neoplasmsCohesin complex componentSubunit specificityAssociated with secondary AMLCohesin complexDe novo acute myeloid leukemiaSecondary acute myeloid leukemiaComplex mutationsCohesinGenetic driversGenetic characteristicsSTAG2 mutationsCo-occurrenceSubunit mutationsMutationsMyeloid malignanciesPrognostic significanceAdverse prognosisPrognostic classificationMyeloid leukemiaClinical characteristicsDana-FarberOntogenyNKX2-2 based nuclei sorting on frozen human archival pancreas enables the enrichment of islet endocrine populations for single-nucleus RNA sequencing
Xie G, Toledo M, Hu X, Yong H, Sanchez P, Liu C, Naji A, Irianto J, Wang Y. NKX2-2 based nuclei sorting on frozen human archival pancreas enables the enrichment of islet endocrine populations for single-nucleus RNA sequencing. BMC Genomics 2024, 25: 427. PMID: 38689254, PMCID: PMC11059690, DOI: 10.1186/s12864-024-10335-w.Peer-Reviewed Original ResearchConceptsSingle-nucleus RNA sequencingRNA sequencingNuclei sortingSnRNA-seqGene expressionEndocrine populationsFluorescence-activated nuclei sortingHuman isletsGene expression librariesNuclei isolation protocolSingle-cell RNA sequencingFrozen archival tissuesIsolated human isletsHuman pancreatic endocrine cellsSingle-cell transcriptomicsTranscriptomic studiesCytoplasmic contaminationTranscriptome profilingConclusionsOur workNKX2-2Isolated nucleiRNA integrityLiving cellsIsolation protocolPancreatic endocrine cellsARID1A orchestrates SWI/SNF-mediated sequential binding of transcription factors with ARID1A loss driving pre-memory B cell fate and lymphomagenesis
Barisic D, Chin C, Meydan C, Teater M, Tsialta I, Mlynarczyk C, Chadburn A, Wang X, Sarkozy M, Xia M, Carson S, Raggiri S, Debek S, Pelzer B, Durmaz C, Deng Q, Lakra P, Rivas M, Steidl C, Scott D, Weng A, Mason C, Green M, Melnick A. ARID1A orchestrates SWI/SNF-mediated sequential binding of transcription factors with ARID1A loss driving pre-memory B cell fate and lymphomagenesis. Cancer Cell 2024, 42: 583-604.e11. PMID: 38458187, PMCID: PMC11407687, DOI: 10.1016/j.ccell.2024.02.010.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDNA-Binding ProteinsHumansLymphomaMemory B CellsMiceMutationNuclear ProteinsTranscription FactorsConceptsFollicular lymphomaGerminal centersB cell fateAggressive follicular lymphomasMemory B cellsHigh-risk patientsSequential bindingNucleosome remodeling complexAggressive diseaseARID1A mutationsBinding of PUClonal precursorsBCL2 oncogeneB cellsPrecision therapyARID1ACD40 signalingLymphomaARID1A inactivationNF-kBRemodeling complexCell fateTranscription factorsPatientsMutationsCombined BET and MEK Inhibition synergistically suppresses melanoma by targeting YAP1
Hu R, Hou H, Li Y, Zhang M, Li X, Chen Y, Guo Y, Sun H, Zhao S, Liao M, Cao D, Yan Q, Chen X, Yin M. Combined BET and MEK Inhibition synergistically suppresses melanoma by targeting YAP1. Theranostics 2024, 14: 593-607. PMID: 38169595, PMCID: PMC10758063, DOI: 10.7150/thno.85437.Peer-Reviewed Original ResearchConceptsMEK inhibitor resistanceMEK inhibitor trametinibTrametinib treatmentInhibitor resistanceInhibitor trametinibMelanoma patientsYAP1 expressionMEK inhibitionBRAF-mutant melanoma patientsResistance to MEK inhibitionYAP1 inhibitionResistance to trametinibMelanoma growth <i>inInhibition of BRD4Trametinib resistanceAntitumor effectMelanoma growthTrametinibNHWD-870YAP1 inhibitorDrug resistanceMelanomaMelanoma samplesMelanoma cellsBRD4 depletion
2023
Colorectal Carcinoma With Sarcomatoid Components
Golconda U, McHugh K, Allende D, Collins K, Henn P, Lacambra M, Bejarano P, Groisman G, Loughrey M, Monappa V, Zhang X, Hornick J, Gonzalez R. Colorectal Carcinoma With Sarcomatoid Components. The American Journal Of Surgical Pathology 2023, 48: 465-474. PMID: 38155543, DOI: 10.1097/pas.0000000000002172.Peer-Reviewed Original ResearchMeSH KeywordsAgedCarcinomaCarcinosarcomaColorectal NeoplasmsDNA HelicasesFemaleHumansMaleNuclear ProteinsSarcomaTranscription FactorsConceptsSarcomatoid componentColorectal carcinomaUndifferentiated carcinomaTumor-infiltrating lymphocytesNodal metastasisAbdominal painDistant metastasisRare subtypeSMARCA4 lossTumor buddingHeterologous elementsRepair protein expressionRectosigmoid regionSpindle cellsGastrointestinal bleedingKeratin-positivePoor prognosisFollow-upCarcinomaMismatch repair protein expressionMolecular testingAdvanced stageTumorLoss of mismatch repair protein expressionProtein expressionNuclear envelope assembly relies on CHMP-7 in the absence of BAF–LEM-mediated hole closure
Barger S, Penfield L, Bahmanyar S. Nuclear envelope assembly relies on CHMP-7 in the absence of BAF–LEM-mediated hole closure. Journal Of Cell Science 2023, 136: jcs261385. PMID: 37795681, PMCID: PMC10668030, DOI: 10.1242/jcs.261385.Peer-Reviewed Original ResearchConceptsNuclear envelope assemblySpindle microtubulesNE assemblyEnvelope assemblyC. elegans oocytesLEM-2C. elegansHelix domainBAF-1Family proteinsNucleoplasmic poolNE formationDistinct rolesMicrotubulesAdditional roleNE stabilityPermeability barrierRedundant mechanismsBAFProteinEmbryo survivalBindingAssemblyElegansAutointegrationPrimary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
Fernandez T, Williams Z, Kline T, Rajendran S, Augustine F, Wright N, Sullivan C, Olfson E, Abdallah S, Liu W, Hoffman E, Gupta A, Singer H. Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene. PLOS ONE 2023, 18: e0291978. PMID: 37788244, PMCID: PMC10547198, DOI: 10.1371/journal.pone.0291978.Peer-Reviewed Original ResearchConceptsRisk genesDe novo damaging variantsGene expression patternsWhole-exome DNA sequencingMid-fetal developmentAdditional risk genesHigh-confidence risk genesParent-child triosGene OntologyCell signalingExpression patternsCalcium ion transportFunctional convergenceCell cycleDamaging variantsGenesDNA sequencingDe novoASD probandsGenetic etiologyBiological mechanismsSequencingDNANetwork analysisIon transportMammalian SWI/SNF chromatin remodeling complexes promote tyrosine kinase inhibitor resistance in EGFR-mutant lung cancer
de Miguel F, Gentile C, Feng W, Silva S, Sankar A, Exposito F, Cai W, Melnick M, Robles-Oteiza C, Hinkley M, Tsai J, Hartley A, Wei J, Wurtz A, Li F, Toki M, Rimm D, Homer R, Wilen C, Xiao A, Qi J, Yan Q, Nguyen D, Jänne P, Kadoch C, Politi K. Mammalian SWI/SNF chromatin remodeling complexes promote tyrosine kinase inhibitor resistance in EGFR-mutant lung cancer. Cancer Cell 2023, 41: 1516-1534.e9. PMID: 37541244, PMCID: PMC10957226, DOI: 10.1016/j.ccell.2023.07.005.Peer-Reviewed Original ResearchConceptsMammalian SWI/SNF chromatinSWI/SNF chromatinMSWI/SNF complexesGenome-wide localizationGene regulatory signaturesNon-genetic mechanismsEpithelial cell differentiationEGFR-mutant cellsChromatin accessibilitySNF complexCellular programsRegulatory signaturesTKI-resistant lung cancerGene targetsKinase inhibitor resistanceCell differentiationMesenchymal transitionTKI resistancePharmacologic disruptionTyrosine kinase inhibitor resistanceCell proliferationChromatinInhibitor resistanceEGFR-mutant lungKinase inhibitorsPathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome
Bruel A, Ganga A, Nosková L, Valenzuela I, Martinovic J, Duffourd Y, Zikánová M, Majer F, Kmoch S, Mohler M, Sun J, Sweeney L, Martínez-Gil N, Thauvin-Robinet C, Breslow D. Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome. Human Molecular Genetics 2023, 32: 2822-2831. PMID: 37384395, PMCID: PMC10481091, DOI: 10.1093/hmg/ddad109.Peer-Reviewed Original ResearchConceptsCilia assemblyCiliary membrane formationIntracellular ciliogenesis pathwayPrimary cilia assemblyBi-allelic missense variantsRab proteinsRab GTPaseCiliary proteinsSmall GTPaseNascent ciliaMother centriolePrimary ciliaC-terminusProtein productsPathogenic variantsRab34Cell typesFunctional impactMissense variantsGTPaseStrong lossCiliogenesisSignificant defectsGenesKey mediatorIntegrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma
Chong M, Knight J, Peng G, Ji W, Chai H, Lu Y, Wu S, Li P, Hu Q. Integrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma. Cancer Genetics 2023, 276: 30-35. PMID: 37418972, DOI: 10.1016/j.cancergen.2023.06.002.Peer-Reviewed Original ResearchConceptsTumor mutation burdenWhole-exome sequencingGrade IIIHepatocellular carcinomaCNA burdenCase seriesBarcelona Clinic Liver Cancer stageExome sequencingBCLC stage CLiver Cancer stageEdmondson-Steiner gradingLarge case seriesGenetic defectsHigher CNA burdenAdjacent nontumor tissuesΒ-catenin pathwayBetter prognosisClinicopathologic findingsPoor prognosisClinicopathologic classificationCancer stageSurvival statusMutation burdenStage CPrognostic predictionHuman nucleolar protein 7 (NOL7) is required for early pre-rRNA accumulation and pre-18S rRNA processing
McCool M, Bryant C, Huang H, Ogawa L, Farley-Barnes K, Sondalle S, Abriola L, Surovtseva Y, Baserga S. Human nucleolar protein 7 (NOL7) is required for early pre-rRNA accumulation and pre-18S rRNA processing. RNA Biology 2023, 20: 257-271. PMID: 37246770, PMCID: PMC10228412, DOI: 10.1080/15476286.2023.2217392.Peer-Reviewed Original ResearchConceptsPre-rRNA accumulationRibosome biogenesisNonessential roleEukaryotic ribosome biogenesisEssential cellular processesNucleolar stress responsePre-rRNA levelsRRNA processingLikely orthologCellular processesAssociated proteinsTumor suppressorStress responseHuman cellsProtein synthesisProtein 7Human counterpartBiogenesisYeastOrthologsHomologSubcomplexAccumulationRRNATranscriptionGenomic mapping of metastatic organotropism in lung adenocarcinoma
Lengel H, Mastrogiacomo B, Connolly J, Tan K, Liu Y, Fick C, Dunne E, He D, Lankadasari M, Satravada B, Sun Y, Kundra R, Fong C, Smith S, Riely G, Rudin C, Gomez D, Solit D, Berger M, Li B, Mayo M, Matei I, Lyden D, Adusumilli P, Schultz N, Sanchez-Vega F, Jones D. Genomic mapping of metastatic organotropism in lung adenocarcinoma. Cancer Cell 2023, 41: 970-985.e3. PMID: 37084736, PMCID: PMC10391526, DOI: 10.1016/j.ccell.2023.03.018.Peer-Reviewed Original ResearchConceptsActionable alterationsPrimary tumorMetastasis-free survivalHigh mutational burdenAPOBEC mutational signatureSolid histological subtypeMetastatic burdenClinicopathological featuresHistological subtypesLung adenocarcinomaMutational burdenLiver lesionsInactivation of TP53Tumor genomicsMetastasisMetastatic organotropismUnknown significanceGenomic alterationsOrganotropismMutational signaturesTumorsNumber alterationsAlterationsBurdenChromosomal instabilityCo-mutations and KRAS G12C inhibitor efficacy in advanced NSCLC
Negrao M, Araujo H, Lamberti G, Cooper A, Akhave N, Zhou T, Delasos L, Hicks J, Aldea M, Minuti G, Hines J, Aredo J, Dennis M, Chakrabarti T, Scott S, Bironzo P, Scheffler M, Christopoulos P, Stenzinger A, Riess J, Kim S, Goldberg S, Li M, Wang Q, Qing Y, Ni Y, Truong M, Lee R, Ricciuti B, Alessi J, Wang J, Resuli B, Landi L, Tseng S, Nishino M, Digumarthy S, Rinsurongkawong W, Rinsurongkawong V, Vaporciyan A, Blumenschein G, Zhang J, Owen D, Blakely C, Mountzios G, Shu C, Bestvina C, Garassino M, Marrone K, Gray J, Patel S, Cummings A, Wakelee H, Wolf J, Scagliotti G, Cappuzzo F, Barlesi F, Patil P, Drusbosky L, Gibbons D, Meric-Bernstam F, Lee J, Heymach J, Hong D, Heist R, Awad M, Skoulidis F. Co-mutations and KRAS G12C inhibitor efficacy in advanced NSCLC. Cancer Discovery 2023, 13: 1556-1571. PMID: 37068173, PMCID: PMC11024958, DOI: 10.1158/2159-8290.cd-22-1420.Peer-Reviewed Original ResearchConceptsNon-small cell lung cancerAdvanced non-small cell lung cancerClinical outcomesPatient stratificationRas gene alterationsInferior clinical outcomesCell lung cancerEarly disease progressionPoor clinical outcomesTumor suppressor genePrognostic subgroupsCombination therapyInferior outcomesIndividual tumorsGene alterationsCo-mutationsClinical outcome predictionDNA damage response/repairLung cancerGenomic alterationsSuppressor geneDisease progressionInhibitor efficacyTreatment personalizationPatientsEvolutionary characterization of lung adenocarcinoma morphology in TRACERx
Karasaki T, Moore D, Veeriah S, Naceur-Lombardelli C, Toncheva A, Magno N, Ward S, Bakir M, Watkins T, Grigoriadis K, Huebner A, Hill M, Frankell A, Abbosh C, Puttick C, Zhai H, Gimeno-Valiente F, Saghafinia S, Kanu N, Dietzen M, Pich O, Lim E, Martínez-Ruiz C, Black J, Biswas D, Campbell B, Lee C, Colliver E, Enfield K, Hessey S, Hiley C, Zaccaria S, Litchfield K, Birkbak N, Cadieux E, Demeulemeester J, Van Loo P, Adusumilli P, Tan K, Cheema W, Sanchez-Vega F, Jones D, Rekhtman N, Travis W, Hackshaw A, Marafioti T, Salgado R, Le Quesne J, Nicholson A, McGranahan N, Swanton C, Jamal-Hanjani M. Evolutionary characterization of lung adenocarcinoma morphology in TRACERx. Nature Medicine 2023, 29: 833-845. PMID: 37045996, PMCID: PMC7614478, DOI: 10.1038/s41591-023-02230-w.Peer-Reviewed Original ResearchConceptsPrimary tumor regionLung adenocarcinomaPresence of micropapillary patternLoss of chromosome 3pSolid pattern tumorsHigh-grade patternsClonal evolution analysisSomatic copy number alterationsTumor regionLoss of heterozygosityWhole-exome sequencing dataCopy number alterationsAdenocarcinoma morphologyIntrathoracic recurrenceLepidic tumorsRNA sequencing dataMicropapillary patternRelapse riskGene alterationsMetastatic samplesHistological spectrumMicropapillary tumorsChromosome 3pHigh-gradeHistopathological analysis
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